Our nation’s special education law, the Individuals with Disabilities Education Act (IDEA) includes Muscular Dystrophy under “orthopedic impairment,” which means...
“…a severe orthopedic impairment that adversely affects a child's educational performance. The term includes impairments caused by congenital anomaly, impairments caused by disease (e.g., poliomyelitis, bone tuberculosis, etc.), and impairments from other causes (e.g., cerebral palsy, amputations, and fractures or burns that cause contractures).”
[34 Code of Federal Regulations §300.8(c) (8)]
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.
TYPES, CAUSES, & CHARACTERISTICS
All the forms of muscular dystrophy are inherited, which means they are caused by mutations (changes) in a person's genes. Specific causes depend on the type of disease and dystrophies.
Duchenne muscular dystrophy (DMD) is the most common form of MD and primarily affects males. DMD is caused by a mutation of a particular gene on the X chromosome. The protein associated with the gene is dystrophin. A lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. DMD has an X-linked recessive inheritance pattern and is passed on by the mother who has a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do.
The muscular dystrophies are a group of diseases that cause weakness and degeneration of the skeletal muscles.
- Becker muscular dystrophy (BMD)
- Congenital muscular dystrophies (CMD)
- Bethlem CMD
- Fukuyama CMD
- Muscle-eye-brain diseases (MEBs)
- Rigid spine syndromes
- Ullrich CMD
- Walker-Warburg syndromes (WWS)
- Duchenne muscular dystrophy (DMD)
- Emery-Dreifuss muscular dystrophy (EDMD)
- Facioscapulohumeral muscular dystrophy (FSHD)
- Limb-girdle muscular dystrophies (LGMD)
- Myotonic dystrophy (DM)
- Oculopharyngeal muscular dystrophy (OPMD)
Motor Neuron Diseases
In motor neuron diseases, nerve cells called motor neurons progressively lose function, causing the muscles they control to become weak and then nonfunctional.
- ALS (amyotrophic lateral sclerosis)
- Spinal-bulbar muscular atrophy (SBMA)
- Spinal muscular atrophy (SMA)
A myopathy is a disease of the muscle in which the muscle fibers do not function properly, resulting in muscular weakness.
- Congenital myopathies
- Cap myopathies
- Centronuclear myopathies
- Congenital myopathies with fiber type disproportion
- Core myopathies (includes: central core disease, multiminicore myopathies)
- Myosin storage myopathies
- Myotubular myopathy
- Nemaline myopathies
- Distal myopathies
- GNE/Nonaka/hereditary inclusion-body myopathy (HIBM)
- Laing distal myopathy
- Markesberg-Griggs late-onset distal myopathy
- Miyoshi myopathy
- Udd myopathy/tibial muscular dystrophy
- VCP myopathy/IBMPFD
- Vocal cord and pharyngeal distal myopathy
- Welander Distal myopathy
- Endocrine myopathies - Disorders of the thyroid gland can sometimes affect muscle function
- Hyperthyroid myopathy
- Hypothyroid myopathy
- Inflammatory myopathies - characterized by progressive weakness and inflammation of skeletal muscle and attributed to disturbances in the immune system
- Inclusion-body myositis
- Metabolic myopathies – affect voluntary muscles and are characterized by inherited chemical deficiencies
- Acid maltase deficiency (AMD, Pompe disease)
- Carnitine deficiency
- Carnitine palmityl transferase deficiency
- Debrancher enzyme deficiency (Cori disease, Forbes disease)
- Lactate dehydrogenase deficiency
- Myoadenylate deaminase deficiency
- Phosphofructokinase deficiency (Tarui disease)
- Phosphoglycerate kinase deficiency
- Phosphoglycerate mutase deficiency
- Phosphorylase deficiency (McArdle disease)
- Myofibrillar myopathies (MFM)
- Scapuloperoneal myopathy
Ion Channel Diseases
Diseases associated with defects in proteins and ion channels typically are marked by muscular weakness, absent muscle tone, or episodic muscle paralysis.
- Andersen-Tawil syndrome
- Hyperkalemic periodic paralysis
- Hypokalemic periodic paralysis
- Mytonia congentia
- Becker myotonia
- Thomsen myotonia
- Paramytonia congentia
- Potassium-aggravated myotonia
Mitochondrial diseases occur when structures that produce energy for a cell malfunction.
- Friedreich’s ataxia (FA)
- Mitocondrial myopathies
- Kearns-Sayre syndrome (KSS)
- Leigh syndrome (subacute necrotizing encephalomyopathy)
- Mitochondrial DNA depletion syndromes
- Mitochondrial encephalomyopahty, lactic acidosis and stroke-like episodes (MELAS)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
- Myoclonus epilepsy with ragged red fibers (MERRF)
- Neuropathy, ataxia and retinitis pigmentosa (NARP)
- Pearson syndrome
- Progressive external opthalmoplegia (PEO)
Neuromuscular Junction Diseases
Neuromuscular junction disorders result from the destruction, malfunction, or absence of one or more key proteins involved in the transmission of signals between muscles and nerves.
- Congenital myasthenic syndromes (CMS)
- Lambert-Eaton myasthenic syndrome (LEMS)
- Mysthenia gravis (MG)
Peripheral Nerve Diseases
In peripheral nerve diseases, the motor and sensory nerves that connect the brain and spinal cord to the rest of the body are affected, causing impaired sensations, movement, or other muscle functions.
- Charcot-Maire-Tooth disease (CMT)
- Giant axonal neuropathy (GAN)
FACTS AND STATS
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by the age of 12, and later need a respirator to breathe. Girls in these families have a 50% chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder’s most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD are characterized by having long, thin faces, drooping eyelids, and a swan-like neck.
Please see the Muscular Dystrophy Association’s website for detailed information on the other forms for muscular dystrophies and related diseases. https://www.mda.org/disease/list
Since muscular dystrophies are genetic mutations, there are no known methods of prevention. However, if women are known carriers of the genetic mutations, their heart should be monitored closely.
Taking preventative measures against falls, such as utilizing assistive devices and protective gear (braces, pads, walkers, scooters, wheelchairs, etc.), can help prevent further muscular injury. Removing rugs from certain areas and other objects scattered on the floor (i.e. toys) are home modifications that may also provide an easier environment for a person with a muscular dystrophy to navigate more safely. Carrying a cell phone or emergency assistance pager at all times can provide an extra ease of mind and independence should a fall or other accident happen.
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.
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 a metal rod with hooks into the spine. Wearing a brace maybe needed to keep the spine aligned.
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 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 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.
- 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)
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.
In addition to an individualized education plan (IEP) or 504 education plan, students with MD may:
- Need adaptive or assistive technological devices in the classroom (such as a keyboard for writing)
- Need to keep an extra set of textbooks (or a digital version) or other course materials at home
- Use a wheelchair or wear joint braces and require an environment in which they are able to move safely and independently in and outside of the classroom (drop off area, building entrances and exits, locker location, etc.)
- Need to have and practice an accommodated emergency evacuation plan in case of drills and real emergencies
- Need assistance with lunch
- Use a ventilator for breathing
- Need preferential seating
- Need additional time to take tests and quizzes
- Require the additional time or assistance to get to other classes or use of an elevator
- Need special considerations about lateness to class, absences, shortened school days, and
- missed class work and homework due to therapy sessions
- Need additional considerations for accessible field trip and physical education class participation
- Require tutoring or additional time to make up assignments
- Need frequent bathroom breaks or visits to the school nurse for medications
Symptoms can vary among students with MD, as can the severity of related problems. Teachers and classmates can be supportive by being aware of any changes in symptoms and watching for signs of abnormal fatigue throughout the day.
Encourage students with MD to participate in all classroom activities at their own pace and comfort level. Provide adaptations as necessary.
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.
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.
OTHER ORGANIZATIONS SPECIFIC TO SEVERAL DIFFERENT FORMS OF MUSCULAR DYSTROPHY
Acid Maltase Deficiency Association (AMDA)
P.O. Box 700248
San Antonio, TX 78270
The Acid Maltase Deficiency Association is a national non-profit established in 1995 to assist in funding research and to promote public awareness of Pompe disease (also known as Acid Maltese Deficiency or Glycogen Storage Disease type II).
Amyotrophic Lateral Sclerosis Association (ALSA)
1275 K Street NW, Suite 250
Washington, DC 20005
First founded in 1869, 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. One of their most recognized donation fundraisers is the ALS ice bucket challenge which gain mass social media attention and participation. The mission of The ALS Association (ALSA) is to find a cure for and improve living with amyotrophic lateral sclerosis.
Cure SMA 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.
Facioscapulohumeral Muscular Dystrophy (FSHD) Society
450 Bedord Street
Lexington, MA 02420 USA
Facioscapulohumeral Muscular Dystrophy Society is a non-profit organization that looks at 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.
Myasthenia Gravis Foundation of America (MGFA)
355 Lexington Ave., 15th Floor
New York, NY 10017
The Myasthenia Gravis Foundation of America (MGFA) is the only national volunteer health agency in the United States dedicated solely to the fight against myasthenia gravis. MGFA has over 20 Chapters around the country serving patients and their families through support groups and programs.
MDF has become the world’s largest DM-only patient advocacy organization, serving individuals and families around the world. Every day, MDF focuses on helping families living with MD by delivering comprehensive support resources, and driving research to accelerate the discovery of DM therapies. MDF community members who volunteer, donation, advocate, and help fulfill the Care and a Cure mission help to make this vision possible.
The National Ataxia Foundation is a nonprofit, membership-supported organization established in 1957 to help families and individuals affected by ataxia. The Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.
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.
United Mitochondrial Disease Foundation (UMDF)
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
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.
Last updated March 2020.