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Resources by Disability
Muscular Dystrophy (MD)
Definition: Muscular Dystrophy (MD) is a group of 30 genetic disorders that cause progressive weakness and deterioration of the body’s muscles.
Symptoms: Some types of MD are mild and progress slowly over a normal lifespan, while others cause severe and rapid muscle degeneration. Duchenne (DMD) is the most common and severe form of MD. It occurs mainly boys, and affects one in every 3,500 infants born in the United States. DMD is caused by the absence of dystrophin (a protein that maintains the body’s muscle cells). Symptoms typically appear in childhood (around age 5), and progress rapidly. Early symptoms include clumsy movement, frequent falls, weakened lower leg muscles, and difficulty rising from a lying or sitting position, later followed by voluntary and involuntary muscle failure. While DMD patients typically live into their late twenties, most are unable to walk by age 12.
Myotonic MD (MMD) is the most common form of MD in male and female adults. Symptoms may emerge at any time, from birth to adulthood. Early symptoms include generalized weakness in the face, neck, hands, and feet, later followed by prolonged muscle spasms, cataracts, cardiac abnormalities, sleep apnea, and insulin resistance. Most people with MMD are severely disabled within 20 years of the onset of symptoms, but do not require a wheelchair.
Cause: MD gradually weakens the body’s muscles, until they are broken down and replaced with fatty deposits. Because all types of MD are hereditary, people with a family history of these disorders are at greatest risk of developing them.
Diagnosis: Physicians diagnose MD by examining a patient’s medical history and performing detailed physical evaluations. A diagnostic test called electromyography measures the electrical activity generated in the patient’s muscles when they contract. Muscle biopsies and genetic tests are usually conducted to confirm the diagnosis. Genetic testing involves examining the DNA extracted from a patient’s blood sample to detect the MD gene.
Treatment: There are treatments that can slow the progression of MD and help manage its symptoms, including medications, positioning aids, corrective orthopedic surgery, nutritional counseling, and physical, occupational, and speech therapy.
Notable People with MD:
- Mattie Stepanek , a best-selling child poet.
Support Groups:
Muscular Dystrophies Association (MDA)
1060 North Kings Highway # 120
Cherry Hill NJ 08034
Tel: (856) 356-4467
Fax: (856) 356-4473
Email: cherryhill@mdausa.org
Website: http://www.mda.org/
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