Multiple Sclerosis
Muscular Dystrophy
Cerebral Palsy
Courtney Barnum, Carlie Jackson, Gretchen Balkman
Table of Contents
3 Multiple Sclerosis
3 Definition
4 Types
4 Causes
6 Who
7 Signs and Symptoms
9 Diagnosis
11 Treatments
12 Role of Therapeutic
Recreation
12 Resources
15 Muscular
Dystrophy
15 Definition
15 Types
18 Causes
18 Signs and Symptoms
19 Diagnosis
20 Specific Needs
20 Treatments
21 Role of Therapeutic
Recreation
21 Resources
23 Cerebral
Palsy
23 Definition
24 Types
30 Causes
32 Signs
and Symptoms
34 Diagnosis
37 Risk Factors
38 Treatments
40 TR Implications
42 Resources
Definition of Multiple Sclerosis
Multiple
sclerosis (or MS) is a chronic, often disabling disease that attacks the central
nervous system (CNS), which is made up of the brain, spinal cord, and optic
nerves.
As part of the immune attack on
the central nervous system, myelin (the fatty substance that surrounds and
protects the nerve fibers in the central nervous system) is damaged, as well as
the nerve fibers themselves. The damaged myelin forms scar tissue (sclerosis),
which gives the disease its name. When any part of the myelin sheath or nerve
fiber is damaged or destroyed, nerve impulses traveling to and from the brain
and spinal cord are distorted or interrupted, producing the variety of symptoms
that can occur.
Symptoms may be mild, such as numbness in the limbs, or severe, such as
paralysis or loss of vision. The progress, severity, and specific symptoms of
MS are unpredictable and vary from one person to another. Today, new treatments
and advances in research are giving new hope to people affected by the disease.
MS is a chronic and unpredictable
MS is not contagious, and is not directly inherited
Many people with MS live a normal life and have normal or near-normal
life expectancy.
Majority of
people with MS do not become severely disabled.
 |
Types of Multiple Sclerosis
Multiple
Sclerosis is typically classified as one of four types: Relapsing Remitting,
Secondary Progressive, Primary Progressive, & Progressive Relapsing.
- Relapsing Remitting:
Relapsing-Remitting MS is characterized by unpredictable episodes of
symptoms followed by periods remission with no disease activity. Deficits
suffered during these episodes or attacks may either resolve or leave
suddenly. Approximately 85% of individuals with MS initially experience
relapsing remitting MS.
- Secondary Progressive:
Secondary progressive MS (“galloping MS”) describes those with an initial
relapsing-remitting MS, who then begin to have progressive neurological
decline between acute attacks without any definite periods of remission.
The median time between disease onset and conversion from
relapsing-remitting to secondary progressive MS is 19 years.
- Primary Progressive:
Primary Progressive MS afflicts approximately 10–15% of individuals with
MS. It is characterized by progression of disability from onset with no
remissions and improvements.
- Progressive Relapsing:
Progressive Relapsing MS describes those individuals who, from onset, have
a steady neurological decline but also suffer clear superimposed attacks.
This is the least common of all subtypes of MS. Atypical variants of MS
with non-standard behavior have been described and associated with
Progressive Relapsing MS.
Causes of Multiple Sclerosis
While the cause of MS is still not known, scientists believe that a
combination of several factors may be involved. Studies are ongoing in the
areas of immunology (the science of the body’s immune system), epidemiology
(that looks at patterns of disease in the population), and genetics in an
effort to answer this important question. Understanding what causes MS will be
an important step toward finding more effective ways to treat it
and—ultimately—cure it, or even prevent it from occurring in the first place.
The major
scientific theories about the causes of MS include the following:
- Immunologic
It is now
generally accepted that MS involves an immune-mediated process—an abnormal
response of the body’s immune system that is directed against the myelin (the
fatty sheath that surrounds and insulates the nerve fibers) in the central
nervous system (CNS—the brain, spinal cord and optic nerves). The exact
antigen, or target that the immune cells are sensitized to attack, remains
unknown -- which is why MS is considered by most experts to be immune-mediated
rather than autoimmune. In recent years, however, researchers have been able to
identify which immune cells are mounting the attack, some of the factors that
cause them to attack, and some of the sites, or receptors, on the attacking
cells that appear to be attracted to the myelin to begin the destructive
process.
- Environmental
MS is known to
occur more frequently in areas that are farther from the equator.
Epidemiologists—scientists who study disease patterns—are looking at many
factors, including variations in geography, demographics (age, gender, and
ethnic background), genetics, infectious causes, and migration patterns, in an
effort to understand why. Studies of migration patterns have shown that people
born in an area of the world with a high risk of MS who then move to an area
with a lower risk before the age of 15, acquire the risk of their new area.
Such data suggest that exposure to some environmental agent that occurs before
puberty may predispose a person to develop MS later on.
Some
scientists think the reason may have something to do with vitamin D, which the
human body produces naturally when the skin is exposed to sunlight. People who
live closer to the equator are exposed to greater amounts of sunlight
year-round. As a result, they tend to have higher levels of naturally-produced
vitamin D, which is thought to have a beneficial impact on immune function and
may help protect against autoimmune diseases like MS.
Other
scientists study MS clusters—which are defined as higher-than-expected numbers
of cases of MS that have occurred over a specific time period and/or in a
certain area. These clusters are of interest because they may provide clues to
environmental (such as environmental and industrial toxins, diet, or trace
metal exposures) factors that might cause or trigger the disease. So far,
cluster studies have not produced clear evidence for the existence of any
triggering factor or factors in MS.
- Infectious
Since initial
exposure to numerous viruses, bacteria and other microbes occurs during
childhood, and since viruses are well recognized as causes of demyelination and
inflammation, it is possible that a virus or other infectious agent is the
triggering factor in MS. More than a dozen viruses and bacteria, including
measles, canine distemper, human herpes virus-6, Epstein-Barr, and Chlamydia
pneumonia have been or are being investigated to determine if they are involved
in the development of MS, but none have been definitively proven to trigger
- Genetic
While MS is
not hereditary in a strict sense, having a first-degree relative such as a
parent or sibling with MS increases an individual's risk of developing the
disease several-fold above the risk for the general population. Studies have
shown that there is a higher prevalence of certain genes in populations with
higher rates of MS. Common genetic factors have also been found in some
families where there is more than one person with MS. Some researchers theorize
that MS develops because a person is born with a genetic predisposition to
react to some environmental agent that, upon exposure, triggers an autoimmune
response.
Who Gets
Multiple Sclerosis?
MS is thought to affect more
than 2.1 million people worldwide. While the disease is not contagious or directly
inherited, epidemiologists—the scientists who study patterns of disease—have
identified factors in the distribution of MS around the world that may
eventually help determine what causes the disease. These factors include
gender, genetics, age, geography, and ethnic background.
Patterns in the Distribution of MS
MS is significantly more common (at least 2-3 times) in women than men.
MS is not directly inherited,
but genetics play an important role in who gets the disease. While the risk of
developing MS in the general population is 1/750, the risk rises to 1/40 in
anyone who has a close relative (parent, sibling, child) with the disease.
In families in which several
people have been diagnosed with MS, the risk may be even higher. Even though
identical twins share the same genetic makeup, the risk for an identical twin
is only 1/4—which means that some factor(s) other than genetics are involved.
While most people are
diagnosed between the ages of 20 and 50, MS can appear in young children and
teens as well as much older adults.
In all parts of the world, MS is more common at northern latitudes that
are farther from the equator and less common in areas closer to the equator.
MS occurs in most ethnic groups, including African-Americans, Asians and
Hispanics/Latinos, but is more common in Caucasians of northern European
ancestry. However some ethnic groups, such as the Inuit, Aborigines and Maoris,
have few if any documented cases of MS regardless of where they live. These
variations that occur even within geographic areas with the same climate
suggest that geography, ethnicity, and other factors interact in some complex
way.
Symptoms of
Multiple Sclerosis
MS is
associated with a large variety of symptoms. Few people experience all of the
possible changes that can occur. These symptoms can come and go and are not the
same in every person. Symptoms
vary, because the location and severity of each attack can be different.
Episodes can last for days, weeks, or months. These episodes alternate with
periods of reduced or no symptoms (remissions).
Fever, hot
baths, sun exposure, and stress can trigger or worsen attacks.
It is common
for the disease to return (relapse). However, the disease may continue to get
worse without periods of remission.
Because nerves
in any part of the brain or spinal cord may be damaged, patients with multiple
sclerosis can have symptoms in many parts of the body.
Common Symptoms:
- Bladder problems appear in 80% of MS patients. The
most common problems are an increase of frequency and incontinence. Some
with Multiple Sclerosis have inability to begin urination, leaking,
retention, and sensation of full bladder. Urinary tract infections are
common with MS.
- Cognitive impairments occur in about 40 to 60 percent
of patients with multiple sclerosis. Some of the most common deficits are
in recent memory, attention, processing speed, emotional instability,
visual-spatial abilities, and executive function. Symptoms range from mild
to severe. Dementia is uncommon with Multiple Sclerosis.
- Emotional symptoms are common with Multiple
Sclerosis. Clinical depression is the most common emotional condition
associated with MS. Depression rates of those with MS is higher than the
general population as well as other persons/groups who are diagnosed with
chronic illnesses. Suicide accounts for approximately of 15% of deaths of
person diagnosed with Multiple Sclerosis.
- Fatigue is a common and often disabling symptom of
MS. When evaluating fatigue associated with MS, depression should also be
evaluated and treated as it’s symptoms may cause fatigue.
- Restrictions in mobility are common in individuals
suffering from multiple sclerosis. Most persons diagnosed with MS will
have difficulty walking or in mobility and require use of an aid or
wheelchair at some point. One third of persons diagnosed will require use
of such devices within 5 years of diagnosis.
- Vision Problems are very common in MS. Up to 50% of
patients with MS will develop an episode of optic neuritis. Individuals
experience rapid onset of pain in one eye, followed by blurry vision. The
blurred vision usually goes away but the person may have decrease color
vision or decreased ability to focus. Many persons with MS also experience
episodes of double vision and involuntary eye movement which make focusing
difficult.
- Chronic Pain is a common symptom in MS. It usually
appears after a lesion to the ascending or descending tracts that control
the transmission of painful stimulus. Acute temporary pain is common as
well as the result of the disease process. Narcotic pain control methods
are typically effective for treating pain associated with MS.
- Lhermitte’s sign is an electrical sensation that runs
down the back and into the limbs. The sign suggests a lesion of the dorsal
columns of the cervical cord. Between 25 and 40% of MS patients report
having Lhermitte’s sign during the course of the disease process.
- Dysesthesias are abnormal sensations produced by
ordinary activities. The abnormal sensations are often described as
painful feelings such as burning, itching, electricity, or pins and
needle. These are caused by lesions of the sensory pathways.
- Sexual dysfunction often affects those with MS. The
prevalence of Sexual dysfunction in men with MS is around 85%. Erectile
dysfunction is the most documented sexual symptom in MS.
- Spasticity is common in MS. Spasticity is
characterized by increased stiffness in limb movement, development of
certain postures, weakness of voluntary muscle power, and involuntary
spasms.
- Transverse myelitis is a rapid onset of numbness, weakness,
and loss of muscle function in the lower half of the body. This is the
result of MS attacking the spinal cord. The symptoms and signs depend upon
the level of the spinal cord involved and the extent of the involvement.
Prognosis for complete recovery is generally poor. Roughly 80% of
individuals with transverse myelitis have permanent symptoms from
transverse myelitis.
- Tremors are
frequent and common with MS. Tremors can be serve and disabling. Commonly
individuals with MS will experience tremors in the hands, arms, and legs.
Less Common Symptoms Include:
- Speech Disorders
- Swallowing Problems
- Headache
- Hearing Loss
- Seizures
- Respiration / Breathing
Problems
- Itching
Diagnosing Multiple
Sclerosis
At this time,
there are no symptoms, physical findings or laboratory tests that can, by
themselves, determine if a person has MS. The doctor uses several strategies to
determine if a person meets the long-established criteria for a diagnosis of MS
and to rule out other possible causes of whatever symptoms the person is
experiencing. These strategies include a careful medical history, a neurologic
exam and various tests, including magnetic resonance imaging (MRI),
evoked potentials (EP) and spinal fluid analysis.
The Criteria for a Diagnosis of MS
In order to
make a diagnosis of MS, the physician must:
- Find evidence of damage in at least
two separate areas of the central nervous system (CNS), which includes the
brain, spinal cord and optic nerves AND
- Find evidence that the damage
occurred at least one month apart AND
- Rule out all other possible
diagnoses
Tools for making the diagnosis:
- Medical History and Neurologic Exam
The physician
takes a careful history to identify any past or present symptoms that might be
caused by MS and to gather information about birthplace, family history and
places traveled that might provide further clues. The physician also performs a
variety of tests to evaluate mental, emotional and language functions, movement
and coordination, balance, vision, and the other four senses.
In many
instances, the person’s medical history and neurologic exam provide enough
evidence to meet the diagnostic criteria. Other tests are used to confirm the
diagnosis or provide additional evidence if it’s necessary.
- MRI
MRI is the best
imaging technology for detecting the presence of MS plaques or scarring (also
called lesions) in different parts of the CNS. It can also differentiate old
lesions from those that are new or active.
The diagnosis
of MS cannot be made solely on the basis of MRI because there are other
diseases that cause lesions in the CNS that look like those caused by MS. And
even people without any disease — particularly the elderly — can have spots on
the brain that are similar to those seen in MS.
Although MRI
is a very useful diagnostic tool, a normal MRI of the brain does not rule out
the possibility of MS. About 5% of people who are confirmed to have MS do not
initially have brain lesions on MRI. However, the longer a person goes
without brain or spinal cord lesions on MRI, the more important it becomes to
look for other possible diagnoses.
3. Evoked Potential Tests
Evoked potential (EP) tests are recordings
of the nervous system's electrical response to the stimulation of specific
sensory pathways (e.g., visual, auditory, general sensory). Because damage
to myelin (demyelination) results in a slowing of response
time, EPs can sometimes provide evidence of scarring along nerve pathways that
does not show up during the neurologic exam. Visual evoked potentials are considered the most useful for
confirming the MS diagnosis.
4.
Cerebrospinal Fluid Analysis
Analysis of the cerebrospinal fluid, which
is sampled by a spinal tap, detects the levels of certain immune system
proteins and the presence of oligoclonal bands. These bands, which indicate an
immune response within the CNS, are found in the spinal fluid of about 90-95%
of people with MS. But because they are present in other diseases as well,
oligoclonal bands cannot be relied on as positive proof of MS.
5. Blood Tests
While there is
no definitive blood test for MS, blood tests can rule out other conditions that
cause symptoms similar to those of MS, including Lyme disease, a group of
diseases known as collagen-vascular diseases, certain rare hereditary
disorders, and AIDS.
Treatment for Multiple
Sclerosis
Although there is still no cure for
MS, effective strategies are available to modify the disease course, treat
exacerbations (also called attacks, relapses, or flare-ups), manage symptoms,
improve function and safety, and provide emotional support. In combination,
these treatments enhance the quality of life for people living with MS.
Modifying the Disease Course. The following agents can reduce
disease activity and disease progression for many individuals with relapsing
forms of MS, including those with secondary progressive disease who continue to
have relapses. Aubagio (teriflunomide), Avonex
(interferon beta-1a), Betaseron (interferon beta-1b), Copaxone (glatiramer
acetate), Extavia (interferon beta-1b), Gilenya (fingolimod), Novantrone (mitoxantrone), Rebif
(interferon beta-1a), Tysabri (natalizumab)
Managing Symptoms. Symptoms of MS are
highly variable from person to person and from time to time in the same
individual. While symptoms can range from mild to severe, most can be
successfully managed with strategies that include medication, self-care
techniques, rehabilitation (with a physical or occupation therapist,
speech/language pathologist, cognitive remediation specialist, among others),
and the use of assistive devices.
Promoting
Function through Rehabilitation. Rehabilitation programs focus on function—they are designed to help you improve or maintain your
ability to perform effectively and safely at home and at work. Rehabilitation
professionals focus on overall fitness and energy management, while addressing
problems with accessibility and mobility, speech and swallowing, and memory and
other cognitive functions.
Rehabilitation
is an important component of comprehensive, quality health care for people with
MS, at all stages of the disease.
Rehabilitation programs include:
- Physical Therapy
- Occupational Therapy
- Therapy for Speech and Swallowing
Problems
- Cognitive Rehabilitation
- Vocational Rehabilitation
TR Implications
Recreation
therapy professionals see very few cases where the MS actually patient
improves. This presents challenges: goals written to maintain functional
ability, maintain range of motion and socialization; goals modified continually
as the disease progresses; objectives dynamic. Healing is paramount. Adaptive
equipment, universal design, supports and attitude makes life bearable.
Treatments
focused upon symptom reduction and management. The goal is to maximize the
individuals independent functioning and to maintain as much of his or her
pre-illness lifestyle as possible.
Outcomes: mastery, self-efficacy, self-discover,
self-control, stress management, adjustment to disability, improved body image,
sense of self.
Resources and Organizations
There are
several organizations that can help you find accurate and useful resources for
dealing with MS. Some of these organizations have local chapters, support
groups and events to help you connect with other people with MS. Other
organizations are more focused on research and medical news.
1. National Multiple Sclerosis Society
The National
Multiple Sclerosis Society is the largest and most famous of MS organizations
with chapters in every state. The MS Society joins researchers and celebrities
to raise the awareness of MS nationwide. Whether you are looking for a support
group or trying to understanding the latest research, the MS Society can help.
2. MedlinePlus: MS Webpage
MedlinePlus is
a service of the National Library of Medicine that helps the average person to
understand many health conditions. MedlinePlus contains links to federal and
other organizations with information on the medical aspects of a wide range of
diseases and conditions. This is a good website to check for links on the
latest NIH research and patient information pages.
3. National Institute of Neurological Disorders
and Stroke (NIH-NINDS)
The National
Institute of Neurological Disorders and Stroke (NINDS) is the NIH Institute
that leads research on MS. NINDS occasionally publishes information pages for
non-medical professionals that will give an overview of MS. You can also find
lists of current research on MS, clinical trials and recent scientific
publications.
4. Multiple Sclerosis International
Federation (MSIF)
For a global
perspective on MS research, news and treatment, visit the Multiple Sclerosis
International Foundation's website. You will find an overview of MS, a
bibliography of MS research, news about international MS events, and
information about MS in other countries. The MSIF's Atlas of MS has a series of
interactive maps that provide data about MS rates throughout the world.
5. National Multiple Sclerosis Foundation
(MSF)
Founded in
1986, this Florida-based organization seeks to "ensure the best quality of
life for those coping with MS by providing comprehensive support and
educational programs." The MSF conducts fundraising for a number of
service and educational projects for people with MS.
6. Multiple Sclerosis Association of America
(MSAA)
Founded in
1970, the MSAA is a national organization that provides programs and services
for people affected by MS. The MSAA has regional offices and can help connect
you with MS resources in your area. The organization conducts fundraising,
educational and support events regularly.
7. Rocky Mountain MS Center
The for-fee
informational website has one the most comprehensive information on
Complementary and Alternative Medicine (CAM) and MS. For a 20 dollar fee, a
person can have access to discussion boards, information pages and more. The
Rocky Mountain MS Center is a non-profit center focused on providing information
about CAM and MS. As always, check with your doctor before using any CAM
therapy.
8. Consortium of Multiple Sclerosis Centers
(CMSC)
This
organization is committed "To be the preeminent professional organization
for Multiple Sclerosis healthcare providers and researchers in North America,
and a valued partner in the global MS community. Our core purpose is to
maximize the ability of MS healthcare providers to impact care of people who
are affected by MS, thus improving their quality of life." The CMSC website
is a great place to learn about some of the latest developments in MS research
and treatment.
Sources
Muscular
Dystrophy (MD)
Definition of Muscular
Dystrophy
Muscular
Dystrophy is a group of more than 30 progressively degenerative genetic
diseases in which muscle fibers are unusually susceptible to damage. The
damaged muscles become progressively weaker. Some forms of MD occur in young
boys as a young age and some don't show symptoms until adulthood. Some over all
symptoms include weak muscles, trouble breathing, trouble swallowing, limbs
drawn inward, contracture (limbs fixed inward) and often heart or other organ
problems.
 |
Types of Muscular Dystrophy
Childhood Types
Duchenne Muscular
Dystrophy
About half of all muscular dystrophy cases are the Duchenne
variety, and occurs most commonly in young boys. It is the most severe type of
MD, taking lives before the boys reach 30. Duchenne MD is the most common
childhood form of MD and also the most common form of MD overall (approximately
50 percent of MD cases). These symptoms first surface when the child begins to
walk and may include:
·
Frequent falls
- Difficulty getting up from a lying position
- Trouble running and jumping
- Waddling gait (weak pelvis)
- Large calf muscles (from fat deposits and build up)
- Learning disabilities
Duchenne MD is inherited through the X-Chromosome and 2/3 of
cases are run in families while the rest reflect new mutation.
 |
Becker Muscular
Dystrophy
Becker MD
is less severe than but closely related to Duchenne MD. Persons with Becker MD
have partial but insufficient function of the protein dystrophin. The disorder
usually appears around age 11 but may occur as late as the age of 25. Many
patients are able to walk past their teens and some affected may never need a
wheelchair. Early symptoms of Becker MD include walking on one's toes, frequent
falls, and difficulty rising from the floor. Calf muscles may appear large and
muscle activity may cause cramps in some people. Cardiac and mental impairments
are not as severe as in Duchenne MD.
Congenital Muscular Dystrophy
This form
of MD refers to a group of autosomal recessive muscular dystrophies that are
either present at birth or become evident before age 2. They affect both boys
and girls. The degree and progression of muscle weakness and degeneration vary
with the type of disorder. Weakness may be first noted when children fail to
meet landmarks in motor function and muscle control. Muscle degeneration may be
mild or severe and is restricted primarily to skeletal muscle. The majority of
patients are unable to sit or stand without support, and some affected children
may never learn to walk.
Emery-Dreifuss
Muscular Dystrophy
Emery-Dreifuss primarily affects
boys. The disorder has two forms: one is x-linked recessive and the other is
autosomal dominant.
Onset of Emery-Dreifuss MD is usually apparent by
age 10, but symptoms may not appear until as late as the mid-twenties. The
disease causes slow but progressive wasting of the upper arm and lower leg
muscles and symmetric weakness. Contractures in the spine, ankles, knees,
elbows, and back of the neck usually precede significant muscle weakness, which
is less severe than in Duchenne MD. Contractures may cause elbows to become
locked in a flexed position. Other symptoms include shoulder deterioration,
toe-walking, and mild facial weakness. Nearly all Emery-Dreifuss MD patients
have some form of heart problem by age 30.
Youth/Adolescent Types
Facioscapulohumeral
Muscular Dystrophy (FSHD)
FSHD
initially affects muscles in the face, shoulders, and upper arms with
progressive weakness. Also know as Landouzy-Dejerine disease, the third most
common form of MD. Most individuals have a normal life span, but some
individuals become severely disabled. Disease progression is typically very
slow, with intermittent spurts of rapid muscle deterioration. Onset is usually
in the teenage years but may occur as late as 40. Muscles around the eyes and
mouth are often affected first, followed by weakness around the lower shoulders
and chest. A particular pattern of muscles wasting causes the shoulders to
appear to be slanted and the shoulder blades winged. Muscles in lower
extremities may also become weakened. Changed in facial appearance may include
the development of a crooked smile, a pouting look, flattened facial features,
or a mask-like appearance. Some individuals cannot pucker their lips or whistle
and may have difficulty swallowing, chewing, or speaking.
Limb-Girdle Muscular
Dystrophy
Limb-Girdle
MD refers to more than a dozen inherited conditions marked by progressive loss
of muscle bulk and symmetrical weakening of voluntary muscles, primarily those
is the shoulders and the hips. Weakness is typically noticed first around the
hips before spreading to the shoulders, legs, and neck. Patients develop a
waddling gait and have difficulty when rising from chairs, climbing stairs, or
carrying heavy objects. Patients fall frequently and are unable to run.
Contractures at the elbows and knees are rare but patients may develop
contractures in the back muscles, which gives them the appearance of a rigid
spine. Some patients also experience cardiomyopathy and respiratory
complications. Most persons with Limb-Girdle MD become severely disabled within
20 years of disease onset.
 |
Adult Types
Distal Muscular
Dystrophy
Distal MD
describes a group of at least six specific muscle diseases that primarily
affect distal muscles (those farthest away from the shoulders and hips) in the
forearms, hands, lower legs, and feet. Distal dystrophies are typically less
severe, progress more slowly, and involve fewer muscles than other forms of MD,
although they can spread to other muscles. Distal MD can affect the heart and
respiratory muscles, and patients may eventually require the use of a
ventilator. Patients may not be able to perform fine hand movement and have
difficulty extending the fingers. As leg muscles become affected, walking and
climbing stairs become difficult and some patients may be unable to hope or
stand on their heels.
Myotonic Muscular
Dystrophy
Myotonic MD
may be the most common adult form of MD. Myotonia, or an inability to relax
muscles following a sudden contraction, is found only in this form of MD.
People with myotonic MD can live a long life, with variable but slowly
progressive disability. Typical disease onset is between ages 20 and 30.
Myotonic MD affects the central nervous system and other body systems.,
including the heart, adrenal glands and thyroid, eyes, and gastrointestinal
tract. Muscles in the face and the front of the neck are usually first to show
weakness and may produce a haggard, “hatchet” face and a thin, swan-like neck.
Other symptoms include cardiac complications, difficulty swallowing, droopy
eyelids, cataracts, poor vision, early frontal baldness, weight loss,
impotence, testicular atrophy, mild mental impairment, and increased sweating.
The disease occurs earlier and is more severe in successive generations.
Oculopharyngeal
Muscular Dystrophy
Oculopharyngeal MD generally
begins in a person's forties or fifties and affects both men and women. In the
United States, the disease is most common in families of French-Canadian
descent and among Hispanic residents of northern New Mexico. Patients first
report drooping eyelids, followed by weakness in the facial muscles and
pharyngeal muscles in the throat. The tongue may atrophy and changes to the
voice may occur. Patients may have double vision and problems with upper gaze,
and others may have retinitis pigmentosa and cardiac irregularities. Those
persons most severely affected will eventually lost the ability to walk.
Causes of Muscular Dystrophy
All
muscular dystrophies are inherited and involve a mutation in one of the
thousands of genes that program proteins critical to muscle integrity. Many
cases of MD occur from spontaneous mutations that are not fond in the genes of
either parent, and this defect can be passed to the next generation. Muscular
dystrophies can be inherited in three different ways: autosomal dominant
inheritance, autosomal recessive inheritance, or x-linked recessive
inheritance.
Symptoms of Muscular Dystrophy
The
symptoms of different classifications of MD vary. Some types, such as Duchenne
MD, are ultimately fatal, while other types are associated with normal life
expectancy. All of the muscles may be affected or only specific groups of
muscles may be affected. Muscular dystrophy can affect males and females as
well as children and adults, but the more sever forms tend to occur early in
childhood.
Symptoms
Include:
- Mental Retardation
- Muscles Weakness that slowly gets worse
- Drooling
- Eyelid drooping
- Delayed development of muscle motor skills
- Frequent falls
- Loss of strength in a muscle or group of muscles as
an adult
- Loss in muscle size
- Problems walking (delayed walking)
Diagnosis
Patient's
medical history and a complete family history should be thoroughly reviewed to
determine in the muscle disease is secondary to a disease affecting other
tissues or organs or is an inherited conditions. It is also important to rule
out any muscle weakness resulting from prior surgery, exposure to toxins,
current medications that may affect the patient's functional status, and any
acquired muscle diseases. Thorough clinical and neurological exams can rule out
disorders of the muscle weakness and atrophy, test reflex responses and
coordination, and look for contractions. Various laboratory tests may be used
to confirm the diagnosis of MD.
Blood and Urine Tests can
detect defective genes and help identify specific neuromuscular disorders.
- The level of
serum aldolase, an enzyme involved in the breakdown of glucose, is
measured to confirm a diagnosis of skeletal muscle disease. High levels of
the enzyme, which is present in most body tissues, are noted in patients
with MD and some forms of myopathy.
- Creatine kinase is an enzyme that leaks out of
damaged muscle. Elevated levels of this enzyme may indicate muscle damage,
including some forms of MD.
- Myoglobin is measures when injury or disease in
skeletal muscle is suspected. Myoglobin is an oxygen-binding protein found
in cardiac and skeletal muscle cells. High blood levels of myoglobin are
found in patients with MD.
- Polymerase chain reaction (PCR) can detect mutations
in the dystrophin gene. Also, known as molecular diagnosis or genetic
testing, PCD is a method for generating and analyzing multiple copies of a
fragment of DNA.
Exercise Tests can
detect elevated rates of certain chemicals following exercise and are used to
determine the nature of the MD or other muscle disorder. Some exercise tests
can be performed at the patient's bedside while others are done at clinics or
other sites using sophisticated equipment. These tests also assess muscle
strength.
Genetic Testing looks
for genes known to either cause or be associated with inherited muscle disease.
DNA analysis and enzyme assays can confirm the diagnosis of certain
neuromuscular disease, including MD. Genetic linkage studies can identify
whether a specific genetic marker on a chromosome and a disease are inherited
together. They are particularly useful in studying families with members in
different generations who are affected. An exact molecular diagnosis is
necessary for some of the treatment strategies that are currently being
developed.
Genetic Counseling
can help parents who have a family history of MD determine if they are carrying
one of the mutated genes that cause the disorder. Two tests can be used to help
expectant parents found out if their child is affected such as the
amniocentesis and the Chorionic Villus Sampling.
Magnetic Resonance
Imaging (MRI) is used to examine
muscle quality, any atrophy or abnormalities in size, and fatty replacement of
muscle tissues, as well as to monitor disease progression. MRI scanning
equipment creates a strong magnetic field around the body. Radio waves are then
passed through the body and then analyzed in either a two or three dimensional
picture. Ultrasound may also be used to measure muscle bulk.
Muscle Biopsies
are used to monitor the course of disease and treatment effectiveness. A small
sample of muscle is removed and studied under a microscope. Muscle biopsy is
necessary to make the diagnosis in most of the acquired muscle diseases.
Specific Needs for Muscular
Dystrophy
Equipment
needed for someone with MD varies depending on the type and severity of the
disease. Some of the more common types of equipment include:
- Wheelchair
- Van lifts
- Shower chairs
- Specialized driving equipment
- Ramps for home
- Specialized clothing
Insurance
companies aren't very helpful in covered the costs of equipment so it is hard
for families. Due to this burden, many organizations exist to aid families in
obtaining equipment, as well as a support system for a family with a member who
has MD.
Treatments of
Muscular Dystrophy
There is
currently no cure for any form of MD. Research into gene therapy may eventually
provide treatment to stop the progression of some types of MD. Current
treatment is designed to help prevent or reduce deformities in the joints and
spine to allow people with MD to remain as mobile as possible.
Assisted
ventilation is often needed to treat respiratory muscle weakness that
accompanies many forms of MD, especially in the later stages. Oxygen is fed
through a flexible mask to help the lungs inflate fully. Since respiratory
difficulty may be most extreme at night, some patients need overnight
ventilation. This may also be the reason a patient may need a gastric feeding
tube.
Drug
therapy would be prescribed to delay muscle degeneration. Corticosteroids can
slow the rate of muscle deterioration in Duchenne MD and can keep children
walking for several years. The down side to this is that the side effects
include weight gain and bone fragility if taken too long. Immunosuppressive
drugs can delay damage to dying muscle cells. There are also drugs that may
provide relief to muscle spasms and weakness.
Physical
therapy can help prevent deformities, improve movement, and keep muscles as
flexible and strong as possible. This mainly consists of stretching, postural
correction, walking therapy, and general exercise. Physical therapy is the
first form of therapy given after diagnosis, before the muscles and joints
tighten up.
Dietary
changes have not been shown to slow the progression of MD. Limited mobility can
contribute to obesity and so a healthy diet is key to keeping their general
health in line.
Occupational
therapy is important because many patients need to relearn skills in order to
work and survive. They are unable to do certain things the same way and an
occupational therapist can help them learn new ways as well as how to cope with
the change.
Corrective
surgery is often performed to ease complications of MD such as scoliosis,
muscle-release surgery, eye-surgery to correct cataracts, and heart surgery.
ROLE OF THERAPEUTIC
RECREATION
Because
muscular dystrophy is a degenerative disorder, it is important for the CTRS to
remember that their patient will lost most of their muscle strength. Before
this happens, it is key to keep the person moving and as actively involved as
possible. Inactivity progresses the inevitable disability much quicker.
Different
types of TR activities will help such as encouraging individuals to do as much
as they can on their own, deep breathing exercises to maintain lung function,
writing or arts and crafts to retain fine motor skills, wheelchair sports,
aquatics to help in range of muscle and relaxation, as well as many different
MD riding lessons.
Muscular Dystrophy
Resources
- Parent Project MD
- This is a specific resource for parents of children
who have been diagnosed with Duchenne MD. They have information regarding
the diagnosis, care, and research that is being done to help in the fight
against Duchenne MD. They also have information of advocation and donation
to the cause. You can find them at www.EndDuchenne.org
- New Horizons Un-Limited Inc.
- This organization is a general resource for those
whose children have MD and given information on national, community, and
internet levels. You can find them at www.new-horizons.org
- Muscular Dystrophy Family Fund
- This organization came about to help families gain
access to special equipment for their family member with MD as well as
advocacy and support groups. They are sponsored by many different
companies and have helped many families across the nation. You can find
them at www.mdff.org
- Muscular Dystrophy Canada
- This is a Canadian organization to help families
living with MD. This is an informational resource about the diagnosis, how
to live with it, as well as information on conferences and workshops in
Canada. You can find them at www.muscle.ca
- Band Back Together
- This is an important organization that helps those
living with MD know that they are not alone. They specialize in helping
fight against abuse to those with MD as well as depression of those who
have MD. They offer information about the diagnosis and other resources in
the area. You can find them at www.bandbacktogether.com
- Muscular Dystrophy Association
- The MDA is a national
resource that gives information you can find in each and every state in
the United States. You can find resources near you by going to www.mdausa.org
Sources
What is Cerebral Palsy?
Cerebral palsy (CP)
is a broad term used to describe a group of chronic "palsies" --
disorders that impair control of movement -- due to damage to the developing
brain. CP usually develops by age 2 or 3 and is a non-progressive brain
disorder, meaning the brain damage does not continue to worsen throughout life.
However, the symptoms due to the brain damage often do change over time;
sometimes getting better and sometimes getting worse. CP is one of the most
common causes of chronic childhood disability.
About 10,000 infants
are diagnosed with CP and up to 1,500 preschoolers are recognized as having it
each year. The United Cerebral Palsy Association estimates that more than
764,000 Americans have CP.
What Cerebral Palsy is and is not, according
to the Cerebral Palsy Organization:
Cerebral palsy is
non-life-threatening –
With the exception of children born with a severe case, cerebral palsy is
considered to be a non-life-threatening condition. Most children with cerebral
palsy are expected to live well into adulthood.
Cerebral palsy is
incurable – Cerebral
palsy is damage to the brain that cannot currently be fixed. Treatment and
therapy help manage effects on the body.
Cerebral palsy is
non-progressive – The
brain lesion is the result of a one-time brain injury and will not produce
further degeneration of the brain.
Cerebral palsy is
permanent – The injury
and damage to the brain is permanent. The brain does not “heal” as other parts
of the body might. Because of this, the cerebral palsy itself will not change
for better or worse during a person’s lifetime. On the other hand, associative
conditions may improve or worsen over time.
Cerebral palsy is
not contagious; it is not communicable – In the majority of cases, cerebral palsy is caused by damage to
the developing brain. Brain damage is not spread through human contact.
However, a person can intentionally or unintentionally increase the likelihood
a child will develop cerebral palsy through abuse, accidents, medical
malpractice, negligence, or the spread of a bacterial or viral infection.
Cerebral palsy is
manageable – The
impairment caused by cerebral palsy is manageable. In other words, treatment,
therapy, surgery, medications and assistive technology can help maximize
independence, reduce barriers, increase inclusion and thus lead to an enhanced
quality-of-life.
Cerebral palsy is
chronic – The effects
of cerebral palsy are long-term, not temporary. An individual diagnosed with
cerebral palsy will have the condition for their entire life.
Types, Forms, and
Classifications of Cerebral Palsy
Many cerebral palsy
classification systems are used today. Over the last 150 years, the definition
of cerebral palsy has evolved and changed as new medical discoveries
contributed to growing knowledge of the condition. Although a myriad of
classifications – used differently and for many purposes – exists today, those
involved in cerebral palsy research are working toward a universally accepted
classification system.
Because of the
diversity of classification systems, parents may want to document different
terms doctors use in cerebral palsy diagnosis. In addition, parents should also
maintain home health records documenting associated impairments, anatomic and
radiation findings, as well as causation and timing.
CLASSIFICATION OF
CEREBRAL PALSY BASED ON:
Severity Level
Cerebral palsy is
often classified by severity level as mild, moderate, severe, or no CP. These
are broad generalizations that lack a specific set of criteria. Even when
doctors agree on the level of severity, the classification provides little
specific information, especially when compared to the GMFCS. Still, this method
is common and offers a simple method of communicating the scope of impairment,
which can be useful when accuracy is not necessary.
- Mild - Mild cerebral palsy means a child can move without
assistance; his or her daily activities are not limited.
- Moderate - Moderate cerebral palsy means a
child will need braces, medications, and adaptive technology to accomplish
daily activities.
- Severe - Severe cerebral palsy means a
child will require a wheelchair and will have significant challenges in
accomplishing daily activities.
- No CP - No CP means the child has cerebral
palsy signs, but the impairment was acquired after completion of brain
development and is therefore classified under the incident that caused the
cerebral palsy, such as traumatic brain injury or encephalopathy.
CLASSIFICATION OF
CEREBRAL PALSY BASED ON:
Topographical
Distribution
Topographical
classification describes body parts affected. The words are a combination of
phrases combined for one single meaning. When used with Motor Function
classification, it provides a description of how and where a child is affected
by cerebral palsy. This is useful in ascertaining treatment protocol.
Two terms are at the
heart of this classification method.
- Paresis means weakened
- Plegia/Plegic means paralyzed
The prefixes and
root words are combined to yield the topographical classifications commonly
used in practice today.
- Monoplegia/monoparesis means only one limb is affected. It is
believed this may be a form of hemiplegia/hemiparesis where one limb is
significantly impaired.
- Diplegia/diparesis usually indicates the legs are affected
more than the arms; primarily affects the lower body.
- Hemiplegia/hemiparesis indicates the arm and leg on one side of
the body is affected.
- Paraplegia/paraparesis means the lower half of the body,
including both legs, are affected.
- Triplegia/triparesis indicates three limbs are affected. This
could be both arms and a leg, or both legs and an arm. Or, it could refer
to one upper and one lower extremity and the face.
- Double hemiplegia/double
hemiparesis indicates
all four limbs are involved, but one side of the body is more affected
than the other.
- Tetraplegia/tetraparesis indicates that all four limbs are
involved, but three limbs are more affected than the fourth.
- Quadriplegia/quadriparesis means that all four limbs are involved.
- Pentaplegia/pentaparesis means all four limbs are involved, with
neck and head paralysis often accompanied by eating and breathing
complications.
CLASSIFICATION OF
CEREBRAL PALSY BASED ON:
Motor Function
The brain injury
that causes cerebral palsy affects motor function, the ability to control the
body in a desired matter. Two main groupings include spastic and non-spastic.
Each has multiple variations and it is possible to have a mixture of both
types.
- Spastic cerebral palsy is characterized by increased
muscle tone.
- Non-spastic cerebral palsy will exhibit decreased or
fluctuating muscle tone.
Motor function
classification provides both a description of how a child’s body is affected
and the area of the brain injury. Using motor function gives parents, doctors,
and therapists a very specific, yet broad, description of a child’s symptoms,
which helps doctors choose treatments with the best chance for success.
Muscle Tone
Many motor function
terms describe cerebral palsy’s effect on muscle tone and how muscles work
together. Proper muscle tone when bending an arm requires the bicep to contract
and the triceps to relax. When muscle tone is impaired, muscles do not work
together and can even work in opposition to one another.
Two terms used to
describe muscle tone are:
- Hypertonia/Hypertonic — increased muscle tone, often
resulting in very stiff limbs. Hypertonia is associated with spastic
cerebral palsy
- Hypotonia/Hypotonic — decreased muscle tone, often
resulting in loose, floppy limbs. Hypotonia is associated with non-spastic
cerebral palsy
Two Classifications
by Motor Function:
Pyramidal and
Extrapyramidal
When referring to
location of the brain injury, spastic and non-spastic cerebral palsy is
referred to in the medical community as pyramidal (spastic) and extrapyramidal
(non-spastic) cerebral palsy.
The pyramidal tract
consists of two groups of nerve fibers responsible for voluntary movements.
They descend from the cortex into the brain stem. In essence, they are
responsible for communicating the brain’s movement intent to the nerves in the
spinal cord that will stimulate the event. Pyramidal cerebral palsy would
indicate that the pyramidal tract is damaged or not functioning properly.
Extrapyramidal
cerebral palsy indicates the injury is outside the tract in areas such as the
basal ganglia, thalamus, and cerebellum. Pyramidal and extrapyramidal are key
components to movement impairments.
Spastic (Pyramidal) –
Spasticity implies
increased muscle tone. Muscles continually contract, making limbs stiff, rigid,
and resistant to flexing or relaxing. Reflexes can be exaggerated, while
movements tend to be jerky and awkward. Often, the arms and legs are affected.
The tongue, mouth, and pharynx can be affected, as well, impairing speech,
eating, breathing, and swallowing.
Spastic cerebral
palsy is hypertonic and accounts for 70% to 80% of cerebral palsy cases. The
injury to the brain occurs in the pyramidal tract and is referred to as upper
motor neuron damage.
The stress on the
body created by spasticity can result in associated conditions such as hip
dislocation, scoliosis, and limb deformities. One particular concern is
contracture, the constant contracting of muscles that results in painful joint
deformities.
Spastic cerebral
palsy is often named in combination with a topographical method that describes
which limbs are affected, such as spastic diplegia, spastic hemiparesis, and
spastic quadriplegia.
Non-Spastic (Extrapyramidal) –
Non-spastic cerebral
palsy is decreased and/or fluctuating muscle tone. Multiple forms of
non-spastic cerebral palsy are each characterized by particular impairments;
one of the main characteristics of non-spastic cerebral palsy is involuntary
movement. Movement can be slow or fast, often repetitive, and sometimes
rhythmic. Planned movements can exaggerate the effect – a condition known as
intention tremors. Stress can also worsen the involuntary movements, whereas
sleeping often eliminates them.
An injury in the
brain outside the pyramidal tract causes non-spastic cerebral palsy. Due to the
location of the injury, mental impairment and seizures are less likely.
Non-spastic cerebral palsy lowers the likelihood of joint and limb deformities.
The ability to speak may be impaired as a result of physical, not intellectual,
impairment.
Non-spastic cerebral
palsy is divided into two groups, ataxic and dyskinetic. Together they make up
20% of cerebral palsy cases. Broken down, dyskinetic makes up 15% of all
cerebral palsy cases, and ataxic comprises 5%.
Ataxic/Ataxia -
Ataxic cerebral
palsy affects coordinated movements. Balance and posture are involved. Walking
gait is often very wide and sometimes irregular. Control of eye movements and
depth perception can be impaired. Often, fine motor skills requiring
coordination of the eyes and hands, such as writing, are difficult.
Dyskinetic -
Dyskinetic cerebral
palsy is separated further into two different groups; athetoid and dystonic.
- Athetoid cerebral palsy includes cases with
involuntary movement, especially in the arms, legs, and hands.
- Dystonia/Dystonic cerebral palsy encompasses cases
that affect the trunk muscles more than the limbs and results in fixed,
twisted posture.
Because non-spastic
cerebral palsy is predominantly associated with involuntary movements, some may
classify cerebral palsy by the specific movement dysfunction, such as:
- Athetosis — slow, writhing movements that
are often repetitive, sinuous, and rhythmic
- Chorea — irregular movements that are not repetitive or rhythmic,
and tend to be more jerky and shaky
- Choreoathetoid — a combination of chorea and
athetosis; movements are irregular, but twisting and curving
- Dystonia — involuntary movements
accompanied by an abnormal, sustained posture
-
Ataxia/Ataxic — does not produce involuntary movements, but instead indicates impaired balance and coordination
Mixed
-
A child’s impairments can fall into both categories, spastic and
non-spastic, referred to as mixed cerebral palsy. The most common form of mixed
cerebral palsy involves some limbs affected by spasticity and others by
athetosis.
CLASSIFICATION OF
CEREBRAL PALSY BASED ON:
Gross Motor
Function Classification System
Gross Motor Function
Classification System (GMFCS) uses a five-level system that corresponds to the
extent of ability and impairment limitation. A higher number indicates a higher
degree of severity. Each level is determined by an age range and a set of
activities the child can achieve on his or her own.
The GMFCS is a
universal classification system applicable to all forms of cerebral palsy.
Using GMFCS helps determine the surgeries, treatments, therapies, and assistive
technology likely to result in the best outcome for a child. Additionally, the
GMFCS is a powerful system for researchers; it improves data collection and
analysis and hence result in better understanding and treatment of cerebral
palsy.
The GMFCS addresses
the goal set by organizations such as the World Health Organization (WHO) and
the Surveillance of Cerebral Palsy in Europe (SCPE) which advocate for a
universal classification system that focuses on what a child can accomplish, as
opposed to the limitations imposed by his or her impairments.
This system is
useful to parents and caretakers as a developmental guideline which takes into
consideration the child’s motor impairment. It assigns a classification level
(GMFCS Level 1 – 5). The parent is then able to understand motor impairment
abilities over time, as the child progresses in age.
To best utilize the
GMFCS, it is often combined with other classification systems that define the
extent, location, and severity of impairment. It is also recommended to
document upper extremity function and speech impairments.
How is GMFCS
Used?
The GMFCS uses head
control, movement transition, walking, and gross motor skills such as running, jumping,
and navigating inclined or uneven surfaces to define a child’s accomplishment
level. The goal is to present an idea of how self-sufficient a child can be at
home, at school, and at outdoor and indoor venues.
When the child fits
in multiple levels, the lower of the two classification levels is chosen. The
GMFCS classification system recognizes that children with impairments have
age-appropriate developmental factors. GMFCS is able to chart by age group
(0-2; 2-4; 4-6; 6-12; and 12-18) a developmental guideline appropriate for the
assigned GMFCS level. It emphasizes sitting, movement transfers and mobility,
charting independence and reliance on adaptive technology.
GMFCS
Classification Levels
- GMFCS Level I- walks without limitations.
- GMFCS Level II- walks with limitations.
Limitations include walking long distances and balancing, but not as able
as Level I to run or jump; may require use of mobility devices when first
learning to walk, usually prior to age 4; and may rely on wheeled mobility
equipment when outside of home for traveling long distances.
- GMFCS Level III- walks with adaptive equipment
assistance. Requires hand-held mobility assistance to walk indoors, while
utilizing wheeled mobility outdoors, in the community and at school; can
sit on own or with limited external support; and has some independence in
standing transfers.
- GMFCS Level IV- self-mobility with use of powered
mobility assistance. Usually supported when sitting; self-mobility is
limited; and likely to be transported in manual wheelchair or powered
mobility.
- GMFCS Level V- severe head and trunk control
limitations. Requires extensive use of assisted technology and physical
assistance; and transported in a manual wheelchair, unless self-mobility
can be achieved by learning to operate a powered wheelchair.
What Causes Cerebral Palsy?
Congenital cerebral
palsy results from brain injury during a baby's development in the womb. It is
present at birth, although it may not be detected for months. It is responsible
for about 70% of children who have cerebral palsy. An additional 20% are
diagnosed with congenital cerebral palsy due to a brain injury during the
birthing process. In most cases, the cause of congenital cerebral palsy is
unknown. Some other causes are:
- Infections during pregnancy that may damage a fetus'
developing nervous system. These include rubella (German measles),
cytomegalovirus (a herpes-type virus), and toxoplasmosis (an infection
caused by a parasite that can be carried in cat feces or inadequately
cooked meat). Other infections in pregnant women that may go undetected
are being recognized now as an important cause of developmental brain
damage of the fetus.
- Severe jaundice in the infant. Jaundice is caused by excessive
bilirubin in the blood. Normally, bilirubin is filtered out by the liver.
But often, newborns' livers need a few days to start doing this
effectively, so it's not uncommon for infants to have jaundice for a few
days after birth. In most cases, phototherapy (light therapy) clears up
jaundice, and there are no lasting health effects. However, in rare cases,
severe, untreated jaundice can damage brain cells.
- Rh incompatibility between mother and
infant. In this blood
condition, the mother's body produces antibodies that destroy the fetus's
blood cells. This, in turn, leads to a form of jaundice in the newborn and
may cause brain damage.
- The physical and metabolic trauma of
being born. This can
precipitate brain damage in a fetus whose health has been threatened
during development.
- Severe oxygen deprivation to the brain
or significant trauma to the head during labor and delivery.
According to the United Cerebral Palsy, about 10% of children with
CP acquire the disorder after birth in the U.S. It results from brain damage in
the first few months or years of life. CP often follows infections of the
brain, such as bacterial meningitis or viral encephalitis, or it may be the
result of a head injury.
Some risk factors that increase the possibility that a child will
later be diagnosed with CP include:
·
Breech births (with the
feet, knees, or buttocks coming out first).
·
Vascular or respiratory
problems in the infant during birth.
·
Physical birth defects
such as faulty spinal bone formation, groin hernias, or an abnormally small jaw
bone.
·
Receiving a low Apgar
score 10 to 20 minutes after delivery. An Apgar test is used to make a basic,
immediate determination of a newborn's physical health. For the test, the
infant's heart rate, breathing, muscle tone, reflexes, and color are evaluated
and given a score from 0 (low) to 2 (normal).
·
A low birth weight (less
than 2,500 grams, or 5 lbs. 7.5 oz.) and premature birth (born less than 37
weeks into pregnancy).
·
Being a twin or part of
a multiple birth.
·
A congenital nervous
system malformation, such as an abnormally small head (microcephaly).
·
Seizures shortly after
birth.
Mothers who had bleeding or severe proteinuria (excess protein in
the urine) late in their pregnancy have a higher chance of having a baby with
CP, as do mothers who have hyperthyroidism or hypothyroidism, mental
retardation, or seizures.
Not all children who are exposed to these risk factors develop CP.
However, parents and doctors should be aware of these risks and watch an
at-risk child's development carefully.
Premature babies —
particularly those who weigh less than 3.3 pounds (1,510 grams) — have a higher
risk of CP than babies that are carried full-term, as are other low birth
weight babies and multiple births, such as twins and triplets.
Brain damage in infancy
or early childhood can also lead to CP. A baby or toddler might suffer this
damage because of lead poisoning, bacterial meningitis, malnutrition, being
shaken as an infant (shaken baby syndrome), or being in a car accident while
not properly restrained.
Signs and Symptoms of Cerebral
Palsy
Signs of cerebral
palsy are different than symptoms of cerebral palsy.
Signs are clinically
identifiable effects of brain injury or malformation that cause cerebral palsy.
A doctor will discern signs of a health concern during exam and testing.
Symptoms, on the
other hand, are effects the child feels or expresses; symptoms are not
necessarily visible.
Impairments
resulting from cerebral palsy range in severity, usually in correlation with
the degree of injury to the brain. Because cerebral palsy is a group of
conditions, signs and symptoms vary from one individual to the next.
The primary effect
of cerebral palsy is impairment of muscle tone, gross and fine motor functions,
balance, control, reflexes, and posture. Oral motor dysfunction, such as
swallowing and feeding difficulties, speech impairment, and poor muscle tone in
the face, can also indicate cerebral palsy. Associative conditions, such as
sensory impairment, seizures, and learning disabilities that are not a result
of the same brain injury, occur frequently with cerebral palsy. When present,
these associative conditions may contribute to a clinical diagnosis of cerebral
palsy.
The most common
early sign of cerebral palsy is developmental
delay. Delay in reaching key growth milestones, such as rolling over,
sitting, crawling and walking are cause for concern. Practitioners will also
look for signs such as abnormal muscle tone, unusual posture, persistent infant
reflexes, and early development of hand preference.
Many signs and
symptoms are not readily visible at birth, except in some severe cases, and may
appear within the first three to five years of life as the brain and child
develop.
If the delivery was
traumatic, or if significant risk factors were encountered during pregnancy or
birth, doctors may suspect cerebral palsy immediately and observe the child
carefully. In moderate to mild cases of cerebral palsy, parents are often first
to notice if the child doesn’t appear to be developing on schedule. If parents
do begin to suspect cerebral palsy, they will likely want to consult their
physician and ask about testing to begin ruling out or confirming cerebral
palsy or other conditions.
Most experts agree; the earlier a cerebral
palsy diagnosis can be made, the better. However, some caution against making a
diagnosis too early, and warn that other conditions need to be ruled out first.
Because cerebral palsy is the result of brain injury, and because the brain
continues to develop during the first years of life, early tests may not detect
the condition. Later, however, the same test may, in fact, reveal the issue.
If a diagnosis can
be made early on, early intervention programs and treatment protocols have
shown benefit in management of cerebral palsy. Early diagnosis also helps
families qualify for government benefit programs and early intervention.
Eight Clinical
Signs of Cerebral Palsy
Since cerebral palsy
is most often diagnosed in the first several years of life, when a child is too
young to effectively communicate his or her symptoms, signs are the primary
method of recognizing the likelihood of cerebral palsy.
Cerebral palsy is a
neurological condition which primarily causes orthopedic impairment. Cerebral
palsy is caused by a brain injury or brain abnormality that interferes with the
brain cells responsible for controlling muscle tone, strength, and
coordination. As a child grows, these changes affect skeletal and joint
development, which may lead to impairment and possibly deformities. The eight clinical signs of
cerebral palsy involve:
- Muscle Tone
- Movement Coordination
and Control
- Reflexes
- Posture
- Balance
- Fine Motor Function
- Gross Motor Function
- Oral Motor Dysfunction
In some instances,
signs become more apparent when the child experiences developmental delay or
fails to meet established developmental milestones.
Diagnosis of Cerebral Palsy
Diagnosing cerebral
palsy takes time. There is no test that confirms or rules out cerebral palsy.
In severe cases, the
child may be diagnosed soon after birth, but for the majority, diagnosis can be
made in the first two years.
For those with
milder symptoms, a diagnosis may not be rendered until the brain is fully
developed at three to five years of age. For example, the average age of
diagnosis for a child with spastic diplegia, a very common form of cerebral
palsy, is 18 months.
This can be a
difficult time for parents who suspect something might be different about their
child. Often, parents are first to notice their child has missed one of the
age-appropriate developmental milestones.
If a growth factor
is delayed, parents may hope their child is just a slow starter who will “catch
up.” While this may be the case, parents should inform the child’s doctor of
concerns, nonetheless.
Confirming cerebral
palsy can involve many steps. The first is monitoring for key indicators such
as:
- When does the
child reach development milestones and growth chart standards for height
and weight?
- How do the
child’s reflexes react?
- Does it seem
as if the child is able to focus on and hear his or her caregivers?
- Does posture
and movement seem abnormal?
Doctors will test
reflexes, muscle tone, posture, coordination and other factors, all of which
can develop over months or even years. Primary care physicians may want to
consult medical specialists, or order tests such as MRIs, cranial ultrasounds,
or CT scans to obtain an image of the brain. Even once a diagnosis of cerebral
palsy is made, parents may wish to seek a second opinion to rule out
misdiagnosis.
Why Diagnosis is
Important?
A diagnosis is
important for many reasons:
- To understand
the child’s health status
- To begin early
intervention and treatment
- To remove
doubt and fear of not knowing
- To find and secure
benefits to offset the cost of raising a child with cerebral palsy
The process for
diagnosing cerebral palsy usually begins with observations made by the child’s
primary care physician, usually a pediatrician, and the child’s parents. There
are some exceptions.
If a baby is born
prematurely, or at a low birth weight, he or she is monitored closely in the
neonatal intensive care unit of the hospital from time of birth. In extreme
cases of child abuse, or shaken baby syndrome a pediatric neurologist called to
the hospital’s emergency or NICU unit will diagnosis the child’s condition. In
the majority of cases the child will attend regular well-baby visits where the
pediatrician first uncovers signs of cerebral palsy during examination. In some
cases, it is the parents who notice symptoms they relay to the child’s doctor
during these visits.
Developmental delay,
abnormal growth charts, impaired muscle tone, and abnormal reflexes are early
indications of cerebral palsy. Because there is no test that definitely
confirms or rules out cerebral palsy, other conditions must be excluded from
the list of possible causes, and cerebral palsy must be fully considered. Other
disorders and conditions can appear as cerebral palsy, and cerebral palsy is
often accompanied by associated conditions that complicate the process of
diagnosis.
The medical
examination process can involve multiple doctors, tests, and appointments.
During this time doctors will rule out other similar conditions such as:
- Degenerative
nervous disorders
- Genetic
diseases
- Muscle
diseases
- Metabolism
disorders
- Nervous system
tumors
- Coagulation
disorders
- Other injuries
or disorders which delay early development, some of which can be
“outgrown”
Common tests that
involve neurologists or neuroradiologists, include neuroimaging, such as
cranial ultrasound, computed tomography scan (CT Scan), and magnetic resonance
imaging scans (MRIs). These tests allow neurologists to actually “see” the
brain. Various disorders, injuries, and conditions yield different results.
These can be used to rule out cerebral palsy.
Infants who test
positive for a developmental disorder may be referred to medical specialists
for further evaluations.
A child may be sent
to an orthopedic surgeon to ascertain delay in motor development, record
persistence of primitive reflexes, examined for dislocated hips, and assessed
for abnormal posture.
Medical specialists
are brought in to test hearing, vision, and perception, as well as cognitive,
behavioral, and physical development.
A genetic specialist
may be consulted for hereditary components.
The pediatrician
will document all surveillance, screening, evaluation, and referral activities
in the child’s health record.
The lengthy and
detailed process can help rule out or confirm cerebral palsy. A formal
diagnosis is usually made once the brain is fully developed between 2 to 5
years of age.
After the child has
been diagnosed with cerebral palsy, the doctors will ascertain the extent,
location and severity of the condition as well as any associative conditions or
co-mitigating factors. Cerebral palsy cannot be cured, however it can be managed.
12-Step
Diagnostic Process
The diagnosis
process begins by monitoring the child’s development and watching for possible
signs of impairment. If a baby is born prematurely, or at a low birth weight,
he or she is monitored closely at time of birth in the hospital’s neonatal
intensive care unit. If the infant attends regularly scheduled well-baby
visits, the pediatritian may be first to notice signs of cerebral palsy. In
some cases, it is parents who notice symptoms they relay to the child’s doctor.
The steps include:
- Step 1: Parental Observation
- Step 2: Clinical Observations
- Step 3: Motor Skill Development Analysis
- Step 4: Medical History Review
- Step 5: Documenting Associative Conditions, Co-Mitigating
Factors, and Ruling-Out Other Conditions
- Step 6: Obtaining Test Results
- Step 7: Diagnosis
- Step 8: Obtaining Second Opinions
- Step 9: Determining Cause
- Step 10: Care Team Assembly
- Step 11: Care Plan Creation
- Step 12: Embracing a Life with Cerebral Palsy
Risk Factors for Cerebral Palsy
Cerebral palsy risk
factors are events, substances or circumstances that increase the chances of a
child developing cerebral palsy. Events that create a greater risk for a child
to develop cerebral palsy include accidents, traumatic brain injury, medical malpractice,
and shaken-baby syndrome.
Events could also
include infections, complicated birth, maternal seizures, inflammation and
improperly managed chronic health conditions. Risks can be avoidable, or
unavoidable.
A mother’s intake of
or exposure to toxins from cigarette smoke, illegal drugs, pesticides, hair
dye, and even the use of some prescription medications during pregnancy can
increase the likelihood that a child conceived later will develop cerebral
palsy. An expectant mother’s exposure to illnesses such as Rubella or the
chicken pox virus also place the fetus at risk for developing cerebral palsy.
Parental health and
habits are known contributing risk factors. For example, parents younger than
18 or older than 34 are more likely to have a child with cerebral palsy.
Mothers with eating disorders that aren’t managed properly during pregnancy can
contribute risk.
A risk factor does not ensure a child will
develop cerebral palsy; it means chances are higher than if that risk factor
was not present. Likewise,
the absence of risk factors does not ensure that a child will not develop
cerebral palsy.
Cerebral palsy risk
factors are often confused with signs, symptoms or causes of cerebral palsy;
they are different. To clarify, risk factors increase the odds of cerebral
palsy occurring. They effect the causal pathway that leads to brain injury or
brain malformation. Symptoms, on the other hand, are the experiences of the
individual, which may indicate a condition exists, and signs are clinical proof
of the condition. The cause of cerebral palsy is one of four types of brain
damage:
- Periventricular Leukomalacia (PVL) – damage to white matter tissue in
the brain
- Cerebral Dysgenesis - brain malformation or abnormal brain development
- Intracranial Hemorrhage (IVH) – brain hemorrhage
- Hypoxic-Ischemic Encephalopathy (HIE) or Intrapartum Asphyxia – lack of
oxygen to the brain or asphyxia
Although risk
factors increase chances of a child developing cerebral palsy, the likelihood
is still low. Approximately two to four in every 1,000 infants develop cerebral
palsy in the United States. Even when risk factors are present, the probability
of a child developing cerebral palsy is low.
Treatments for Cerebral Palsy
Although the brain
injury that causes cerebral palsy cannot be healed, the resulting physical
impairment can be managed with a wide range of treatments and therapies. Each
child’s impairment is unique and therefore no universal treatment for cerebral
palsy exists. Instead, individuals with cerebral palsy are independently
assessed and treated for their unique needs.
While therapy and
adaptive equipment are the primary treatment for cerebral palsy, a child may
also require drug therapy and surgical interventions. Some families, with
caution and physician guidance, turn to complementary and alternative medicine
for additional assistance.
Although each
medical specialist may have specific care goals related to their specialty, the
overriding treatment goal for those with cerebral palsy is to:
- Optimize
mobility
- Manage primary
conditions
- Control pain
- Prevent and
manage complications, associative conditions and co-mitigating factors
- Maximize
independence
- Enhance social
and peer interactions
- Foster
self-care
- Maximize
ability to communicate
- Maximize learning
potential
- Enhance
quality-of-life
Common conventional
methods of treatment, complementary and alternative methods of treatment, and a
comprehensive treatment plan process are detailed below:
- Aqua Therapy
- Behavioral Therapy
Conductive Education- Hippotherapy
- Massage Therapy
- Nutrition and Diet Plan Counseling
- Occupational Therapy
- Physical Therapy and Physiotherapy (Rehabilitation)
- Play Therapy
- Recreation Therapy
- Sensory Integration Therapy
- Social Therapy
- Speech and Language Therapy
- Vocational Counseling
- Gastroenterology Surgery
- Hearing Correction Surgery
- Medicine Related Surgery
- Orthopedic Surgery
- Neurosurgery
- Vision Correction Surgery
- Anticholinergics (abnormal movements)
- Anti-Convulsants (seizure medications)
- Anti-Depressants
- Anti-Spastic (muscle relaxers)
- Pain Management
Therapeutic Recreation
Implications
Therapeutic
recreation is an important step in helping an individual with cerebral palsy
become a well-rounded individual afforded the benefits that physical, mental,
and social experiences provide. Recreation therapy focuses on inclusion, not
exclusion, by allowing the individual to participate and be an integral part of
activities they enjoy and learn from.
However, recreation
therapy also has another purpose – to enhance the ability of a child with
cerebral palsy to plan, strategize and perform tasks in an effort to achieve improved
physical functioning and encourage emotional well-being by facilitating
inclusion into activities they benefit by and enjoy. This provides quality of
life.
Recreation therapy
is a treatment that helps children with cerebral palsy develop and expand
physical and cognitive capabilities while participating in recreational
activities. Though a child may participate in other therapies that specifically
address physical function need, recreation therapy is specifically designed to
allow children to partake in leisure pursuits by eliminating the roadblocks
that impede the pursuit of sports, arts, crafts, games and other life-enhancing
activities.
‘Where there is a
will, there is a way’ montra applies to recreation therapy. When children with
impairment are presented with an obstacle to perform a life-enhancing activity,
recreation therapists work to identify the interest level, capabilities,
adaptive approaches, and in some cases modified processes required to complete
the activity successfully.
Recreation
opportunities have advanced through the years. Sports like rugby, soccer and
tennis have been modified for individuals in wheelchairs. Hockey can be played
using an innovative, custom-designed sled and extreme sports, such as modified
downhill bike racing, prove that those with impairment have more sporting
options – and fewer limits – than ever before.
Recreation therapy
also addresses arts and cultural pursuits. Children with compromised fine motor
hand strength can use softer than average clay to make ceramic pots. Organized
painting instruction using vibrant colors can help children build crucial
neurological connections. Artwork can be created by using specialized
applications and assistive equipment. Children are participating in dance
recitals using adaptive equipment, modified movements and accepted grace.
The goals of recreation therapy include:
- Determining a
child’s capacity for recreational performance
- Minimizing a
child’s disability by teaching him or her adaptive strategies
- Motivating a
child to take part in activities with encouragement and support
- Modifying
process and procedures to enhance inclusion
- Expanding a
child’s ability to socialize and make friends
- Enhancing a
child’s self-concept and self-confidence
- Helping a
child develop interests
What are the
Benefits of Recreation Therapy?
Recreation therapy
has numerous benefits for children with cerebral palsy – it can improve
physical functionality, improve neurological connections associated with
processing activities, and provide opportunities for inclusion. Children
involved with recreation therapy benefit within both group or solitary
environments. The time spent within activities of interest decreases
opportunities for depression, loneliness and frustration. In fact, recreation
therapy provides a greater sense of self-worth and accomplishment.
Another benefit that
a child will enjoy is the ability to take part in activities with his or her
family, neighborhood children, school mates and others with like interests.
When an individual is accepted into a group, other members of that group are
exposed to the ever-increasing capabilities of those with impairment. Often
siblings, friends, and co-workers would like to interact with individuals with
cerebral palsy, but are discouraged by their ability to know how. Those trained
in recreation that participate in activities often become the examples of human
possibility, understanding and inspiration for those with and without impairment.
Physical benefits of recreation therapy
include:- Improved physical adeptness
- Increased strength and flexibility
- Improved physical fitness and health
- Improved athletic prowess
- Improved coordination
Psychological benefits of recreation therapy include:
- Acceptance of disability
- Increased social skills
- Increased ability to manage stress and
depression
- Decreased anger and anxiety
- Diminished social isolation
- Improved body image
- Improved well-being and relaxation
Cognitive benefits of recreation therapy
include:- Improved behavior
- Increased analytical and decision-making
skills
- Improved confidence
- Increased organization
- Increased perception
Sources
Hey ...
ReplyDeleteYou've out done yourself this time on Our orthopedics department is the best place if you need to be operated on in your bones or surrounding soft tissues. Great job here. Orthopedic Hospital in Hyderabad
This an informative and helpful post - so clear and easy to follow step by step process.
ReplyDeleteOrthopedic Doctor in Hyderabad
Thanks for this post. I really enjoy your point of view.
ReplyDeleteOrthopedic Hospital in Hyderabad
I got a lot of tips and advice those solve existing issues on ... from this article is with step by step process.
ReplyDeleteOrthopedic Hospital in Hyderabad
Good info
ReplyDeleteworthy to Re-Visit
bone cancer specialist in hyderabad
This post was very interesting and informative. thanks a lot for sharing such great article.best urology center in andhra pradesh
ReplyDelete..best urology center in guntur
.best urology center in guntur
I was asked by a medical doctor Nicola Whitehill to purchase Dr Itua herbal medicine for Scleroderma as June is Scleroderma month. It took a lot to go through and remember that I have been through a lot! I have learned a lot about herbal medicines and my fight to have a healthy lifestyle! I have recommended Dr Itua herbal medicines to a lot of people so that they can see that the fight may be hard at times, but it is all worth it! You are worth the fight, so don't ever give up and continue to be your own advocate and you may need to switch doctors to get the best care for your body! Keep your head up and keep moving forward despite the obstacle that you may be on! God only gives you what He can handle, so put your faith, trust, and hope in Him and ask Him to show you the direction in which He wants you to go! By researching and finding what you are putting in or on your body can help tremendously and help you to use Food as Medicine to help heal your gut!
ReplyDeleteDr Itua has all types of herbal medicines to cure all kinds of disease such as Herpes,Diabetes,HPV,Copd,Als,Ms,HIV,Cancers,hepatitis,Parkinson,Infertility and other human disease and infections you may have been going through in your life Dr Itua will prepare you a permanent cure.
Dr Itua herbal center email contact: drituaherbalcenter@gmail.com. www.drituaherbalcenter.com