Muscular Dystrophy

FAQ
There are over 30 types of MD. Duchenne, Becker, myotonic, facioscapulohumeral, limb-girdle, congenital, distal, oculopharyngeal, and Emery-Dreifuss are all types of MD.
Muscle weakness, delayed motor skills, frequent falls, and difficulty walking all are symptoms of MD. Specific symptoms, age at diagnosis, severity, and rate of disease progression vary, depending on the type and affected muscles.
MD is caused by genetic mutations that interfere with the production of proteins needed for muscle health. Many of these genetic mutations are inherited, but some appear sporadically, without prior family history.
Genetic testing, muscle biopsy, and electromyography are a few of the tests that are used to diagnose MD.
Some types of MD are more debilitating than others, and some can affect lifespan. Physical therapy and supportive care are important for managing symptoms. Drug therapy may be used to slow muscle degeneration, and gene therapies are available for some types of MD.

Joy Tanaka, PhD
Medical Reviewer
Joy Tanaka, PhD, specializes in clinical molecular genetics. She is dedicated to integrating excellent clinical care with cutting-edge medical research for patients with rare and u...

Anna C.E. Hurst, MD, MS, FACMG
Medical Reviewer
- Muscular Dystrophy. National Institute of Neurological Disorders and Stroke. December 19, 2024.
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