Saturday, December 14, 2013

Cerebral Palsy, Muscular Dystrophy, Multiple Sclerosis

Cerebral Palsy
Definition                                                 


While cerebral palsy is a blanket term commonly described by loss or impairment of motor function, cerebral palsy is actually caused by brain damage.
The brain damage is caused by brain injury or abnormal development of the brain that occurs while a child’s brain is still developing — before birth, during birth, or immediately after.


Cerebral palsy affects body movement, muscle control, muscle coordination, muscle tone, reflex, posture and balance. It can also impact fine motor skills, gross motor skills and oral motor functioning.




Those with cerebral palsy are most likely born with the condition, although some acquire the condition at birth or shortly thereafter depending on cause. Signs and symptoms of cerebral palsy may not always be apparent at birth. The child will likely experience a delay in development and growth milestones. (www.cerebralpalsy.org)


The term cerebral palsy refers to any one of a number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but don’t worsen over time. Even though cerebral palsy affects muscle movement, it isn’t caused by problems in the muscles or nerves.  It is caused by abnormalities in parts of the brain that control muscle movements.  The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later. The early signs of cerebral palsy usually appear before a child reaches 3 years of age.  The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a “scissored” gait; and muscle tone that is either too stiff or too floppy.  A small number of children have cerebral palsy as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. (http://www.ninds.nih.gov)


Types                          


Spastic Cerebral Palsy- Spastic cerebral palsy is the most common type of cerebral palsy, occurring in about 70%-80% of all cases.. The muscles of people with spastic cerebral palsy appear stiff and their movements may look stiff and jerky.


Spasticity is a form of hypertonia, or increased muscle tone. When people without cerebral palsy perform a movement, some groups of muscles turn on and some groups of muscles turn off. In people with spastic cerebral palsy, both groups of muscles may become turned on at the same time. In some instances the wrong muscle groups may turn on. This makes movement difficult or even impossible.


Spasticity is seen in a number of different conditions including cerebral palsy, traumatic brain injury, spinal cord injury, stroke and multiple sclerosis.People may have difficulty moving from one position to another and controlling individual muscles or muscle groups needed for performing certain tasks like handling objects or speaking
In cerebral palsy, spasticity is due to damage to the motor cortex of the brain before, during or after birth. This part of the brain is considered the supreme command centre for control of body movements.
Dyskinetic Cerebral Palsy- People with dyskinetic forms of cerebral palsy have variable movement that is involuntary (outside of their control). These involuntary movements are especially noticeable when a person attempts to move.
Dyskinetic cerebral palsy results from damage to the basal ganglia of the brain. The basal ganglia is like the brain’s switchboard for interpreting messages between the movement centre and the spinal cord – it is responsible for regulating voluntary movements. The different forms of dyskinesia result from damage to slightly different structures within the basal ganglia. This form of cerebral palsy occurs in about 10% of all cases.
Ataxic-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.


Ataxia is the least common form of cerebral palsy. Ataxia means ‘without order’ or ‘incoordination’. It happens when there is damage to the cerebellum which helps with coordination. Ataxic movements are characterised by clumsiness, imprecision, or instability. Movements are not smooth and may appear disorganised or jerky.
The incoordination seen with ataxia occurs when a person attempts to perform voluntary movements such as walking or picking up objects. Ataxia causes an interruption of muscle control in the arms and legs, resulting in a lack of balance and coordination.
Who
Cerebral Palsy can affect any person, as it is neither genetic nor a disease. It is caused by brain damage, usually because of so trauma or complication during pregnancy or birth.
Symptoms
General Symptoms
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:


Muscle Tone
Movement Coordination and Control
Reflexes
Posture
Balance
Fine Motor Function
Gross Motor Function
Oral Motor Dysfunction


Type Specific Symptoms


Spastic-Muscles appear stiff because the messages to the muscles are sent incorrectly through the damaged part of the brain.When a muscle is affected by spasticity, the faster the limb is moved, the stiffer it seems.Spasticity arises as a result of damage to bundles of neurons in the brain and spinal cord called the corticospinal tracts and corticobulbar tracts.
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.
Dyskinetic- Dyskinetic movements can be:
  • Twisting and repetitive movements – known as dystonia
  • Slow, ‘stormy’ movements – known as athetosis
  • Dance-like irregular, unpredictable movements – known as chorea.
Dyskinetic cerebral palsy is characterized by both hypertonia and hypotonia.
Dyskinetic cerebral palsy results from damage to the basal ganglia of the brain. The basal ganglia is like the brain’s switchboard for interpreting messages between the movement centre and the spinal cord – it is responsible for regulating voluntary movements. The different forms of dyskinesia result from damage to slightly different structures within the basal ganglia.
Ataxic- People with ataxia may have:
  • Unsteady, shaky movements or tremor
  • Difficulties maintaining balance
  • People with ataxia appear very unsteady and shaky because their sense of balance and depth perception is affected.
Ataxia results from damage to the cerebellum. The cerebellum is the balance centre of the brain. The cerebellum fine-tunes movement commands in order to compensate for whatever posture is being used. It also accounts for the various forces being generated by different parts of the body.
Diagnose


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.



Treatments


Cerebral palsy can’t be cured, but treatment will often improve an individual's capabilities.  In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.   Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers.


TR Implications
Cerebral palsy cannot be cured, so recreation therapy should work to treat symptoms and adapt activities to the individual's abilities. This can be done by: goals written to maintain functional ability, maintain range of motion and socialization; 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 their mental well being.


Outcomes: mastery, self-efficacy, self-discovery, self-control, stress management, adjustment to disability, improved body image, sense of self.


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



Resources



















Multiple Sclerosis


Definition

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. This process is called Demyelination.


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. Most people with MS learn to cope with the disease and continue to lead satisfying, productive lives. Today, new treatments and advances in research are giving new hope to people affected by the disease.


Types of Multiple Sclerosis
People with MS can typically experience one of four disease courses, each of which might be mild, moderate, or severe. The Four Courses of MS are
1. Relapsing-Remitting MS
People with this type of MS experience clearly defined attacks of worsening neurologic function. These attacks—which are called relapses, flare-ups, or exacerbations —are followed by partial or complete recovery periods (remissions), during which no disease progression occurs. Approximately 85% of people are initially diagnosed with relapsing-remitting MS.
2. Primary-Progressive MS
This disease course is characterized by slowly worsening neurologic function from the beginning—with no distinct relapses or remissions. The rate of progression may vary over time, with occasional plateaus and temporary minor improvements. Approximately 10% of people are diagnosed with primary-progressive MS.
3. Secondary-Progressive MS
Following an initial period of relapsing-remitting MS, many people develop a secondary-progressive disease course in which the disease worsens more steadily, with or without occasional flare-ups, minor recoveries (remissions), or plateaus. Before the disease-modifying medications became available, approximately 50% of people with relapsing-remitting MS developed this form of the disease within 10 years. Long-term data are not yet available to determine if treatment significantly delays this transition.
4. Progressive-Relapsing MS
In this relatively rare course of MS (5%), people experience steadily worsening disease from the beginning, but with clear attacks of worsening neurologic function along the way. They may or may not experience some recovery following these relapses, but the disease continues to progress without remissions.


Causes of MS
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:
1.         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.
2.         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.
3.         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
4.         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 2.3 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


Symptoms of MS are caused by the disruption in nerve signaling from the central nervous system (CNS) to other parts of the body as a result of damage to the myelin (the protective coating around nerve cells) and the nerve cells. The course of the disease, some symptoms will come and go, while others may be more lasting.
The more common symptoms include:


  • Fatigue- is one of the most common symptoms of MS, occurring in about 80% of people. Fatigue can significantly interfere with a person's ability to function at home and at work, and may be the most prominent symptom in a person who otherwise has minimal activity limitations.
  • Numbness- of the face, body, or extremities (arms and legs) is one of the most common symptoms of MS, and is often the first symptom experienced by those eventually diagnosed as having MS.
  • Walking (Gait), Balance, & Coordination Problems- Problems with gait (difficulty in walking) are among the most common mobility limitations in MS. Gait problems are related to several factors
  • Bladder Dysfunction- Bladder dysfunction, which occurs in at least 80% of people with MS, usually can be managed quite successfully
  • Bowel Dysfunction- Constipation is a particular concern among people living with MS, as is loss of control of the bowels. Diarrhea and other problems of the stomach and bowels also can occur.
  • Vision Problems- A vision problem is the first symptom of MS for many people. The sudden onset of double vision, poor contrast, eye pain, or heavy blurring is frankly terrifying-and the knowledge that vision may be compromised can make people with MS anxious about the future.
  • Dizziness and Vertigo- People with MS may feel off balance or lightheaded. Much less often, they have the sensation that they or their surroundings are spinning, a condition known as vertigo.
  • Sexual Dysfunction- Sexual problems are often experienced by people with MS, but they are very common in the general population as well. Sexual arousal begins in the central nervous system, as the brain sends messages to the sexual organs along nerves running through the spinal cord. If MS damages these nerve pathways, sexual response—including arousal and orgasm—can be directly affected. Sexual problems also stem from MS symptoms such as fatigue or spasticity, as well as from psychological factors relating to self-esteem and mood changes.
  • Cognitive Dysfunction- Cognition refers to a range of high-level brain functions, including the ability to learn and remember information: organize, plan, and problem-solve; focus, maintain, and shift attention as necessary; understand and use language; accurately perceive the environment, and perform calculations. Cognitive changes are common in people with MS—approximately 50% of people with MS will develop problems with cognition.
  • Emotional Changes- Emotional changes are very common in MS—as a reaction to the stresses of living with a chronic, unpredictable illness and because of neurologic and immune changes caused by the disease. Bouts of severe depression (which is different from the healthy grieving that needs to occur in the face of losses and changes caused by MS), mood swings, irritability, and episodes of uncontrollable laughing and crying (called pseudobulbar affect) pose significant challenges for people with MS and their family members.
  • Spasticity- Spasticity refers to feelings of stiffness and a wide range of involuntary muscle spasms (sustained muscle contractions or sudden movements). It is one of the more common symptoms of MS. Spasticity may be as mild as the feeling of tightness of muscles or may be so severe as to produce painful, uncontrollable spasms of extremities, usually of the legs. Spasticity may also produce feelings of pain or tightness in and around joints, and can cause low back pain. Although spasticity can occur in any limb, it is much more common in the legs.


Less Common Symptoms
  •         Speech Disorders
  •         Swallowing Problems
  •         Headache
  •         Hearing Loss
  •         Seizures
  •         Tremor
  •         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.
Diagnosis
In order to make a diagnosis of MS, the physician must:
  1. 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
  2. Find evidence that the damage occurred at least one month apart AND
  3. Rule out all other possible diagnoses
The Tools for Making a Diagnosis
1.  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.  
2. 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.   Visual Evoked Potential (VEP)
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 canrule 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


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
http://www.nationalmssociety.org/index.aspx
http://www.msconnections.org/multiple-sclerosis-information/1316/
http://www.va.gov/MS/multiple-sclerosis-symptom-management.asp
http://multiplesclerosis.com/us/




Muscular Dystrophy
           
Definition
Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

Types


Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and eventual deathThe disorder is caused by a mutation in the dystrophin gene, the largest gene located on the human X chromosome, which codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females rarely exhibit signs of the disease.
Symptoms usually appear in male children before age 6 and may be visible in early infancy. Even though symptoms do not appear until early infancy, laboratory testing can identify children who carry the active mutation at birth. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs, eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD is around 25
Becker Muscular Dystrophy-Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin. Survival is usually into old age. Affects only boys (with extremely rare exceptions)
Cogenital Muscular Dystrophy-Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. Muscular dystrophies in general are genetic, degenerative diseases primarily affecting voluntary muscles.


Age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span. Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be paired with effects on the brain and other organ systems. A number of the forms of the congenital muscular dystrophies are caused by defects in proteins that are thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus.


Distal Muscular Dystrophy-Distal Muscular Dystrophy(DD) is a class of muscular dystrophies that primarily affect distal muscles, which are those of the lower arms, hands, lower legs and feet. Muscular dystrophies in general are a group of genetic, degenerative diseases primarily affecting voluntary muscles.


Types of distal muscular dystrophy include: distal myopathy with vocal cord and pharyngeal weakness; Finnish (tibial) distal myopathy; Gowers-Laing distal myopathy; hereditary inclusion-body myositis type 1; Miyoshi distal myopathy; Nonaka distal myopathy; Welander’s distal myopathy; and ZASP-related myopathy.


Distal muscular dystrophy can lead to weakness and wasting of muscles of the hands, forearms and lower legs. Distal muscular dystrophies' age at onset: 20 to 60 years.


Emery-Dreifuss muscular dystrophy- Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.


EDMD usually shows itself by age 10 and is characterized by wasting and weakness of the muscles that make up the shoulders and upper arms and the calf muscles of the legs. Another prominent aspect of EDMD is the appearance of contractures (stiff joints) in the elbows, neck and heels very early in the course of the disease.


Finally, and very importantly, a type of heart problem called a conduction block is a common feature of EDMD and requires monitoring


EDMD is caused by mutations in the genes that produce proteins in the membrane surrounding the nucleus of each muscle cell. EDMD can be inherited several different ways, although symptoms are essentially the same for all inheritance patterns. EDMD progresses slowly. Muscle weakness may not become a source of difficulty until later in life, although cardiac problems are usually detectable by age 20. Intellect isn’t affected.



Facioscapulohumeral muscular dystrophy-Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the most affected.


The long name comes from facies, the Latin word and medical term for face; scapula, the Latin word and anatomical term for shoulder blade; and humerus, the Latin word for upper arm and the anatomical term for the bone that goes from the shoulder to the elbow.


The term muscular dystrophy means progressive muscle degeneration, with increasing weakness and atrophy (loss of bulk) of muscles. In FSHD, weakness first and most seriously affects the face, shoulders and upper arms, but the disease usually also causes weakness in other muscles.


FSHD usually begins before age 20, with weakness and atrophy of the muscles around the eyes and mouth, shoulders, upper arms and lower legs. Later, weakness can spread to abdominal muscles and sometimes hip muscles.


Some experts divide FSHD into adult-onset and infantile-onset forms. The adult-onset (which includes FSHD that begins in adolescence) is far more common.


In either type of FSHD, facial weakness can start in childhood. Occasionally, other FSHD symptoms appear in early childhood. Infantile-onset FSHD generally runs a more pronounced course with regard to muscle weakness and sometimes also affects hearing and vision. Preliminary evidence suggests that the infantile-onset form is associated with a larger piece of missing DNA.


FSHD may be inherited through either the father or the mother, or it may occur without a family history. It is almost always associated with a genetic flaw (mutation) that leads to a shorter than usual segment of DNA on chromosome 4. The segment isn’t part of any particular gene, but it nevertheless seems to interfere with the correct processing of genetic material.


A small number of people have a disorder that looks exactly like FSHD but don’t have the short segment on chromosome 4. The genetic cause of their disorder has yet to be identified.


FSHD usually progresses very slowly and rarely affects the heart or respiratory system. Most people with the disease have a normal life span.


Limb-girdle muscular dystrophy-Limb-girdle muscular dystrophy (LGMD) isn’t really one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the hips and shoulders. The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is the muscles connected to the limb girdles that are the most affected in LGMD.


The term proximal is also used to describe the muscles that are most affected in LGMD. The proximal muscles are those closest to the center of the body; distal muscles are farther away from the center (for example, in the hands and feet). The distal muscles are affected late in LGMD, if at all.


As of late 2012, there are more than 20 different subtypes of LGMD, and this is a complex and constantly evolving area of research


LGMD, like other muscular dystrophies, is primarily a disorder of voluntary muscles. These are the muscles you use to move the limbs, neck, trunk and other parts of the body that are under voluntary control. Over time, muscle weakness and atrophy can lead to limited mobility and an inability to raise the arms above the shoulders.


The involuntary muscles, except for the heart (which is a special type of involuntary muscle), aren’t affected in LGMD. Digestion, bowel, bladder and sexual function remain normal. The brain, intellect and senses also are unaffected in LGMD. Cardiopulmonary complications sometimes occur in later stages of the disease.


LGMD is caused by a mutation in any of at least 15 different genes that affect proteins necessary for muscle function. Some types are autosomal dominant, meaning LGMD is inherited from one parent. Other types are autosomal recessive and occur when a faulty gene is inherited from each parent.          


At this time, progression in each type of LGMD can’t be predicted with certainty, although knowing the underlying genetic mutation can be helpful. Some forms of the disorder progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability.


LGMD can begin in childhood, adolescence, young adulthood or even later. Both genders are affected equally.


When limb-girdle muscular dystrophy begins in childhood, some physicians say, the progression is usually faster and the disease more disabling. When the disorder begins in adolescence or adulthood, they say, it’s generally not as severe and progresses more slowly.


Myotonic muscular dystrophy-Myotonic muscular dystrophy (MMD) is a form of muscular dystrophy that affects muscles and many other organs in the body.


The word myotonic is the adjective for the word myotonia, an inability to relax muscles at will. The term muscular dystrophy means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue.


Myotonic muscular dystrophy often is abbreviated as “DM” in reference to its Greek name, dystrophia myotonica. Other names for this disorder include simply myotonic dystrophy and, occasionally, Steinert disease, after the German doctor who originally described the disorder in 1909.


MMD is divided into two types.


Type 1 MMD (MMD1) occurs when a gene on chromosome 19 called DMPK contains an abnormally expanded section.


Type 2 MMD (MMD2) is caused by an abnormally expanded section in a gene on chromosome 3 called ZNF9. MMD2 was originally called PROMM, for proximal myotonic myopathy, a term that has remained in use but is somewhat less common than the term MMD2.


The expanded sections of DNA in these two genes appear to have many complex effects on various cellular processes.


MMD causes weakness of the voluntary muscles, although the degree of weakness and the muscles most affected vary greatly according to the type of MMD and the age of the person with the disorder.


Myotonia, the inability to relax muscles at will, is another feature of MMD. For example, it may be difficult for someone with MMD to let go of someone's hand after shaking it.


As the disease progresses, the heart can develop an abnormal rhythm and the heart muscle can weaken.  The muscles used for breathing can weaken, causing inadequate breathing, particularly during sleep.


In addition, in type 1 MMD (see Types of MMD), the involuntary muscles, such as those of the gastrointestinal tract, can be affected. Difficulty swallowing, constipation and gallstones can occur. In females, the muscles of the uterus can behave abnormally, leading to complications in pregnancy and labor.


The development of cataracts (opaque spots in the lenses of the eyes) relatively early in life is another characteristic of MMD, in both type 1 and type 2.


Overall intelligence is usually normal in people with MMD, but learning disabilities and an apathetic demeanor are common in the type 1 form. In congenital MMD1, which affects children from the time of birth, there can be serious impairment of cognitive functioning. These children also may have problems with speech, hearing and vision.


Generally, the earlier MMD1 begins, the more profound the symptoms tend to be. For more, see Signs and Symptoms.


In general, MMD2 has a better overall prognosis than MMD1. The symptoms are often relatively mild and progress slowly. MMD2 rarely occurs during childhood, and there is no known congenital-onset form.


The progression of MMD varies greatly among individuals, but in general, symptoms progress slowly.


The most common type of MMD1 — the "adult-onset" form — begins in adolescence or young adulthood, often with weakness in the muscles of the face, neck, fingers and ankles. The weakness is slowly progressive for these and eventually other muscles.


When MMD1 begins earlier in life than adolescence — the congenital-onset and juvenile-onset forms of the disease — it may be quite different in progression from the adult-onset type. Children with congenital-onset MMD1, once they survive the crucial neonatal period of respiratory muscle weakness with the help of assisted ventilation, usually show improvements in motor and breathing functions over the first year or so. They may have cognitive impairment, delayed speech, difficulty eating and drinking and various other developmental delays. Most will learn to walk. As adolescence approaches, children begin to show symptoms of the adult-onset form of MMD1 and follow its usual progression.


The childhood-onset form of MMD1 — beginning after infancy but before adolescence — is more often characterized by cognitive and behavioral abnormalities than by physical disabilities. Eventually, muscle symptoms develop, to varying degrees.


MMD2 is, in general, a milder disease than type 1. It does not appear to have a congenital-onset form and rarely begins in childhood.


In contrast to type 1 MMD, the muscles affected first in MMD2 are the proximal muscles — those close to the center of the body — particularly those around the hips. However, some finger weakness may be seen early as well. The disorder progresses slowly, but mobility may be impaired early because of weakness of the large, weight-bearing muscles.


MMD2 is quite rare, except in Germany and in people of German descent. Not as much is known about MMD2 as about MMD1.


Oculopharyngeal muscular dystrophy-OPMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Although named for the muscles it affects first — the eyelids (oculo) and throat (pharyngeal) — OPMD also can affect facial and limb muscles.
Difficulty swallowing and keeping the eyes open are common with OPMD. Later on, some people with OPMD may have mobility problems.


OPMD is caused by a genetic defect leading to production of extra chemical material that forms clumps in the muscle cells. It can be inherited from either one or both parents, and affects men and women equally.


Symptoms of OPMD usually do not appear until the 40s or 50s, and progression is slow.


Who


Muscular dystrophies are generally inherited, and the different muscular dystrophies follow various inheritance patterns. Many, like Becker,Duchenne, and Emery-Dreifuss only affect males as they are inherited on the X chromosomes. Other forms of muscular dystrophy, like FSHD and cogential, can affect both males and females.
           
Symptoms


Progressive muscular wasting
Poor balance
Drooping eyelids
Atrophy
Scoliosis (curvature of the spine and the back)
Inability to walk
Frequent falls
Waddling gait
Calf deformation
Limited range of movement
Respiratory difficulty
Joint contractures
Cardiomyopathy
Arrhythmias
Muscle spasms
           
Diagnose


The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, electrocardiography and DNA analysis.


A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.


Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.




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


There is no known cure for muscular dystrophy. Physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis), speech therapy and orthopedic instruments (e.g., wheelchairs, standing frames and powered mobile arm supports) may be helpful. Inactivity (such as bed rest, sitting for long periods) and bodybuilding efforts to increase myofibrillar hypertrophy can worsen the disease.


There is no specific treatment for any of the forms of muscular dystrophy. Physiotherapy, aerobic exercise, low intensity anabolic steroids, prednisone supplements may help to prevent contractures and maintain muscle tone. Orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine, but no actual long term treatment has been found.


Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy conservation techniques. Occupational therapy may implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility. Occupational therapists also address psychosocial changes and cognitive decline which may accompany MD, as well as provide support and education about the disease to the family and individual.


High dietary intake of lean meat, seafood, pulses, olive oil, antioxidants such as leafy vegetables and bell peppers, and fruits like blueberry and cherry is advised. Decreased intake of refined food, trans fats, and caffeinated and alcoholic beverages is also advised, as is a check for any food allergies.


After diagnosis, medical care may include services in neurology, nutrition, gastroenterology, respiratory care, cardiac care, orthopedics, psychosocial, rehabilitation, and oral care.


TR Implications


Because muscular dystrophy is a degenerative disorder, it is important for the CTRS to remember that their patient will lose 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.


Treatment can focus on dealing with symptoms or addressing other diagnoses that can come along with these conditions, such as depression, anxiety, etc. Its important to remember that most people with these disabilities will not get “cured.” As a CTRS it’s critical to
  • Be Patient
  • Work on Range of motion
  • Use of Adaptive Activities is important
  • Adapt goals and activities as condition progresses





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





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