Muscular Dystrophy

DISABILITY CATEGORY: Other Health Impairments—Muscular Dystrophy

TYPES:

Acid Maltase Deficiency (Pompe's Disease), Amyotrophic Lateral Sclerosis (ALS) AKA:  Lou Gehrig's Disease, Ataxia, Duchenne MD, Becker MD, Carnitine Deficiency, Carnitine Palmitoyl Transferase Deficiency, Centeral Core Disease, Charcot Marie Tooth Diease (CMT), Congenital MD, Congenital Myasthenic Syndrome, Debrancher Enzyme Deficiency (Forbes Disease), Dejerine-Sottas Disease, Dermatomyositis, Distal Muscular Dystrophy (DD), Duchenne (DMD), Emery-Dreifuss Muscular Dystrophy (EDMD), Facioscapulohumeral MD, Fibrodysplasia Ossificans Progressive (FOP), Hyperthyroid Myopathy, Hypothyroid Myopathy, Inclusion Body Myositis, Lactate Dehydrogenase Deficiency, Lambert-Eaton Syndrome, Limb-Girdle Muscular Dystrophy (LGMD), Mitochrondrial Myopathy, Myasthenia Gravis, Myoadenylate Deaminase Deficiency, Myotonia Congenita, Myotonic MD (MMD) (Also known as Steinert's Disease), Oculopharyngeal Muscular Dystrophy (OPMD), Paramyotonia Congenita, Periodic Paralysis, Phosphofructokinase Deficiency, Phosphyoglycerate Mutase Deficiency, Phosphorylase Deficiency, Polymyositis, Spinal Bulbar Muscular Atrophy (Kennedy’s Disease), Spinal Muscular Atrophy (Adult), Spinal Muscular Atrophy –Type 1 (Infantile), Type 2 (Intermediate), Spinal Muscular Atrophy (Juvenile)

(Source:  Muscular Dystrophy Family Foundation (MDFF))

 DEFINITION: 

Our nation’s special education law, the Individuals with Disabilities Education Act (IDEA) defines Muscular Dystrophy under other health impairments injury as...

            “…having limited strength, vitality, or alertness, including a heightened alertness to environmental stimuli, that results in limited alertness with respect to the educational environment, that

• is due to chronic or acute health problems such as asthma, attention deficit hyperactivity disorder, diabetes, epilepsy, a heart condition, hemophilia, lead poisoning, leukemia, nephritis, rheumatic fever, and sickle cell anemia; and

• adversely affects a child’s educational performance.”

                                                            [34 Code of Federal Regulations §300.7(c)(9)]

Other Definitions: The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. (Source:  National Institute of Neurological Disorders and Stroke (NINDS))

FACTS AND STATS: Girls usually do not get DMD or BMD because if they receive an unhealthy dystrophy gene from their mother, they are able to receive a healthy gene from their father.  However, with boys, this is not the case.  Girls may not have symptoms of MD but be carriers.  Women with dystrophic deficiencies may result in weaker muscles in the back, legs, and arms that fatigue easily.  Manifesting carriers may have heart problems, which result in shortness of breath or the inability to do moderate exercises (Source:  Muscular Dystrophy Association Publications (MDA)). 

Facts and Stats on other Diseases

Pompe’s Disease: 5,000 to 10,000 people in the developed world. (Source: Pompe’s Disease Website)

Becker MD:  1 in 25,000 (Source:  MDFF)

Carnitine Palmitoyl Transferase Deficiency:  59 cases have been made known (Source: Spiral Notebook Website)

Charcot Marie Tooth Disease (CMT):  1 in 2,500 (Source: MDFF)

Congenital MD:  1 in 100, 000 (International Myotonic Dystrophy website)

Duchenne (DMD):  1 in 3,000-3,500 (Source:  MDFF)

Myotonic Muscular Dystrophy:  1 in 8,000 occurrence in adult MD (Source:  MDFF)

Spinal Muscular Atrophy (Adult):  1 in 6,000 (Source:  MDFF)

Spinal Muscular Atrophy (Juvenile):  1 in 6,000 (Source:  MDFF)

CAUSES: All the forms of muscular dystrophy are inherited, which means they are caused by mutations (changes) in a person's genes. Causes depend on the type of disease and dystrophies. DMD and BMD occur when the gene on the X chromosome fails to make, make enough, or makes faulty dystrophin.  Dystrophin is used to help muscles from degenerating. Other causes are degeneration of the motor nerve cells in the spinal chord, weakness in the transmission of signals from nerves to muscles, genetic defects, chemical deficiencies, genetic defects, degeneration of both peripheral nerves and certain nerve cells in the brain and spinal cord, and disorders of the thyroid gland which can possibly affect muscle functioning (Source: MDA Publications). 

PREVENTION:  Since muscular dystrophies are genetic mutations, there are no known methods of prevention.  However, if women are carriers of the genetic mutations, their heart should be monitored closely (Sources:  MDA Publications). 

CHARACTERISTICS:

Motor Neuron Diseases:
This is a group of progressive diseases chiefly characterized by degeneration of the motor nerve cells in the spinal cord. They include amyotrophic lateral sclerosis (ALS) and several forms of spinal muscular atrophy (SMA).

Diseases of the Neuromuscular Junction:
Myasthenia gravis is an autoimmune disease characterized by fluctuating weakness resulting from a failure in the transmission of signals from nerves to muscles. The disease initially affects eye movement, facial expression, chewing, swallowing and respiration, and can later affect arm and leg muscles. Lambert-Eaton (myasthenic) syndrome is associated with initial aching and wasting of the muscles of the shoulders and thighs. Congenital myasthenic syndrome results from genetic defects.

Metabolic Disease of Muscle:
This is a group of progressive diseases that affect voluntary muscles and are characterized by inherited chemical deficiencies — usually of a specific enzyme such as phosphorylase (McArdle’s disease), acid maltase (Pompe’s disease) or carnitine palmityl transferase.

Diseases of Peripheral Nerves:
These diseases affect the peripheral nervous system, causing progressive weakness and atrophy of muscles. Friedreich’s ataxia is characterized by shaky movements and unsteadiness due to degeneration of both peripheral nerves and certain nerve cells in the brain and spinal cord. Charcot-Marie-Tooth disease is characterized by progressive weakness of the feet, lower legs, hands and forearms, and a mild loss of sensation in the limbs. It results from degeneration of peripheral nerves that control muscle contraction and sensation.

The Inflammatory Myopathies:
This group of potentially debilitating diseases is characterized by progressive weakness and inflammation of skeletal muscle and attributed to disturbances in the immune system. Polymyositis can cause weakness of the pelvis, shoulders and limbs, as well as difficulty in swallowing. Dermatomyositis can cause similar symptoms and is accompanied by a rash and other changes in the skin. Inclusion-body myositis causes atrophy of the arms and legs, usually in people over 50.

Myopathies Due to Endocrine Abnormalities:
Disorders of the thyroid gland can sometimes affect muscle function. Hyperthyroid myopathy is characterized by muscle weakness and muscle wasting. Hypothyroid myopathy causes delayed muscle relaxation, stiffness and painful cramps.

Other Myopathies:
This is a group of unrelated genetic muscle disorders, usually named for peculiarities seen in biopsies of muscle tissue. Central core disease, usually apparent at birth, causes skeletal deformities and diffuse weakness. Nemaline myopathy, is also apparent at birth, results in loss of muscle tone and progressive weakness in limb and trunk muscles. Myotubular myopathy causes poor muscle tone at birth and varying degrees of weakness in eye, facial, neck and limb muscles (Source:  MDA Fact Sheet). 

MEDICAL AND NON-MEDICAL TREATMENTS:

There is no specific treatment to stop or reverse any form of MD.

Respiratory Muscle Weakness:  Anyone with a weakened respiratory system is also subject to more infections and difficulty in coughing.  Treatments to help breathing are to get a coughing machine or learn procedures to assist with coughing and keep the bronchial system free from secretions. Assisted ventilation may be needed to help provide sufficient airflow in and out of the lungs. Sometimes a respirator is needed only at night. When it's needed more often, a tracheotomy may be performed and a tube inserted directly into the trachea (airway) to deliver air to the lungs. Respiratory therapy may also be another form of treatment. 

Heart Problems:  medication or an implanted pacemaker

Improve mobility and Postpone Contractures (shortening of muscles or tendons):  Doing range of motion exercises with a physical therapist in addition to using orthopedic appliances, corrective orthopedic surgeries, braces, use of a wheelchair, prednisone (catabolic steroids), non-steroidal medication or other assistive technologies will help improve range of motion, mobility, and flexibility. Braces are used to support the ankles and foot and can extend to the knee. Standing for a few hours each day also helps circulation, healthier bones, and a straight spine. With limited mobility and lack of exercise, there is a risk of obesity. Obesity can reduce a boy’s mobility or severely impair respiratory functions. 

Prevention of Scoliosis:  Exercises to keep the back straight is important. Spine-Straight surgery involves inserting the metal rod with hooks into the spine. Wearing a brace maybe needed to keep the spine aligned. 

Medications:  Catabolic steroids (prednisone) can be taken to slow the loss of muscle functioning or even to increase the strength of DMD. Side effects with prednisone are weight gain, loss of bone and (paradoxically) muscle tissue, thinning of the skin, raised blood pressure and blood sugar, and serious psychological distress, including difficulty thinking, sleeping and controlling behavior, and even severe depression. Calcium supplements or anti-depressants can be used to offset osteoporosis or effects of brain chemistry. 

Diet:  Diet should consist more of fruit and vegetables because of weak abdominal muscles and to prevent constipation. Boys in wheelchairs, who take prednisone, or who aren’t very active should have a low calorie intake to keep weight down and prevent obesity. Those on prednisone will also need to be on a low-sodium diet. 

Exercise:  Exercise can help build skeletal muscles, keep the cardiovascular system healthy, and contribute to feeling better but should be done under physician guidance.  Too much exercise can be damaging.  Swimming and aquatic exercises has been recommended by experts to help tone muscles without putting too much undue stress.  Consultation of physician is recommended before doing any sort of exercise. 

Therapies: 

• Physical Therapy (PT):  Helps patients to have greater motion in joints and prevent scoliosis and contractures

• Occupational Therapy (OT):  Helps patients learn tasks related to work and other activities. 

• Speech Therapy:  Help patients with muscles weakness in their mouth, face, and neck to articulate words. 

• Drug Therapy:  Includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections.

• Gene therapy: A mechanism for supplementing defective genes with healthy genes in the tissues affected by neuromuscular disease

• Gene repair: A mechanism for repairing the genetic defect in a person's own DNA in the cells of the affected tissues

• Cell therapy: A mechanism for transplanting healthy replacement muscle using primitive cells called stem cells from a healthy donor. Cell therapy may ultimately be used in combination with gene therapy to correct defects in a person's own muscle stem cells. (Source:  MDA Publications)

PROGNOSIS: The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability (Source: NINDS). 

EDUCATIONAL IMPLICATIONS: A third of boys affected with DMD have some degrees of learning disabilities.  Learning problems that occur with children who have DMD or BMD are attention focusing, verbal learning and memory, and emotional interaction.  If a learning disability has been diagnosed, specialists (teacher and psychologists) can possibly provide exercises to help the child.  Mental Retardation is also associated with certain diseases (Source:  MDA). 

ORGANIZATIONS:

Acid Maltase Deficiency Association (AMDA)
P.O. Box 700248
San Antonio, TX  78270
210-494-6144
http://www.amda-pompe.org

National non-profit that funds research and promotes public awareness of Acid Maltase Deficiency which is also known as Pompe’s disease.

Amyotrophic Lateral Sclerosis Association
27001 Agoura Road, Suite 150
Calabasas Hills, CA 91301-5104
(818) 880-9007

The ALS Association is the only national not-for-profit health organization dedicated solely to the fight against ALS. ALSA covers all the bases - research, patient and community services, public education, and advocacy - in providing help and hope to those facing the disease. The mission of The ALS Association (ALSA) is to find a cure for and improve living with amyotrophic lateral sclerosis.

Facioscapulohumeral Muscular Dystrophy (FSHD) Society
3 Westwood Road
Lexington, MA   02420
781-860-0501
http://www.fshsociety.org

Facioscapulohumeral Muscular Dystrophy Society is a non-profit organization that looks and addresses the needs of facioscalpulohumeral muscular dystrophy.  This organization helps and promotes scientific and clinical research through education of the public, governmental bodies, and the medical profession; exchange between researchers and clinicians involved in the diagnosis and study of the cause and treatment of FSHD; collect and distribute information about FSHD, its cause and treatment; foster communication among national and international interested parties, provide support for living with FSHD by assisting in the organization of support groups and by serving as a referral source for helpful professionals.

Families of Spinal Muscular Atrophy
P. O. Box 196
Libertyville, IL 60048-0196
(800) 886-1762, (847) 367-7620
http://www.fsma.org/

Families of Spinal Muscular Atrophy is the largest international organization dedicated to promoting and supporting research related to spinal muscular atrophy (SMA), supporting and helping them cope with SMA through programs, and disseminating information regarding SMA. The website provides information regarding statistics about SMA, resources, chat rooms, medical issues about SMA, and grants and updated research regarding SMA. 

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ   85718-3208
520-529-2000 800-344-4863
http://www.mda.org

A voluntary health agency that partners between scientists and concerned citizens aimed at conquering neuromuscular diseases that affect more than a million Americans.  MDA combats neuromuscular diseases through programs of worldwide research, comprehensive medical and community services, and far-reaching professional and public health education.  Website provides pamphlets and printed resources for each and every one of the diseases related to various MD’s. 

Myasthenia Gravis Association
1821 University Ave. W., Suite S256
St. Paul, MN 55104
(651) 917-6256 or (800) 541-5454
http://www.myasthenia.org/

The mission of Myasthenia Gravis Association of Colorado is to better understand the physical condition through educational and information programs and support services which improve the quality of life for those with myasthenia gravis.  The association also financially supports the research for the cure of myasthenia gravis disease.

National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
(763) 553-0020
http://www.ataxia.org/

The National Ataxia Foundation is a nonprofit, membership-supported organization established in 1957 to help ataxia families. The Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.

United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
(412) 793-8077

United Mitochondrial Disease Foundation exists to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families

RESOURCES

Websites: 

http://www.spiralnotebook.org

A quick reference guide and resource to helping people deal with Carnitine Palmitoyl Transferase Deficiency and disseminate information to people and their families affected by carnitine palmitoyl transferase deficiency. 

http://www.myotonicdystrophy.org/

International Myotonic Dystrophy Organization disseminates information on dealing with congenital and myotonic dystrophy. 

http://www.davidmcd.btinternet.co.uk/

This website is an encyclopedia for physicians, parents, guardians, patients, and professionals regarding nemaline myopathy (NM).  Included are resources (publications, places to get supplies, advice, etc…) and brief description of the disease. 

Parents:

Muscular Dystrophy Family Foundation
3951 N. Meridian Street
Suite 100
Indianapolis, IN   46208-4062
317-923-6333 800-544-1213
http://www.mdff.org

Muscular Dystrophy Family Foundation offers to provide adaptive equipment and emotional support to individuals and families affected by neuromuscular diseases.Some of the adaptive equipment provided by MDFF includes wheelchairs, hospital beds, van lifts, ramps for family homes, shower chairs, lift systems, communication devices and breathing machines. Support services, including clinical programs, home visits, and social outings, also help clients learn to live everyday with No Boundaries.  The Muscular Dystrophy Family Foundation provides service to children and adults regardless of race or socioeconomic status.  The foundation gives plenty of opportunity for its supporters to sign up and be involved with various activities to support the foundation and its members.  Updates are provided to its supporters through newsletters.  The foundation’s website provides information to answer questions of both patients and parents or family members regarding muscular dystrophy and has a link to other helpful resources. 

Parent Project Muscular Dystrophy (PPMD)
1012 North University Blvd.
Middletown, OH   45042
513-424-0696 800-714-KIDS (5437)
http://www.parentprojectmd.org

Parent Project Muscular Dystrophy’s mission is to improve the treatment, quality of life and long-term outlook for all individuals affected by Duchenne muscular dystrophy (DMD) through research, advocacy, education and compassion. Website provides resources to help answer questions relating to treatment and care for DMD patients, information regarding research done on DMD cures and treatments, educational issues, emotional issues, and informs its visitors about breaking news regarding DMD. 

Giving a Face to DMD: Understanding the disease and Guidelines for CARE and Management Produced by Parent Project Muscular Dystrophy

This two DVD set provides information for parents on how to best treat children with DMD. First of this DVD set provides general information for DMD, its cause, and how a diagnosis is reached. The second offers more information on how to care and mange those with DMD. [Available through: http://www.parentprojectmd.org/site/PageServer?pagename=nws_index].

Children:

MDA Summer Camp

http://www.mdausa.org/clinics/camp

A week long camp experience for children who suffer with neuromuscular diseases. Camps are held all over the country. There are wide range activities for those with limited mobility or who use a wheelchair such as sports (swimming, boating, baseball, football, and horse back riding) as well as physically less demanding activities such as arts and crafts and talent shows. Special guests are invited to appear such as firefighters and Harley Davidson riders. 

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