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Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare muscle disorders that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs.
Over thirty different disorders are classified as muscular dystrophies. Of them, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually ultrarare – genetic disorders.
Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. These mutations are either inherited from parents or may occur spontaneously during early development. Muscular dystrophies may be X-linked recessive, autosomal recessive, or autosomal dominant. Diagnosis often involves blood tests and genetic testing.
There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are under development, including gene therapy and antisense drugs. Other medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells. Physical therapy, braces, and corrective surgery may help with some symptoms while assisted ventilation may be required in those with weakness of breathing muscles.
Outcomes depend on the specific type of disorder. Many affected people will eventually become unable to walk and Duchenne muscular dystrophy in particular is associated with shortened life expectancy.
Muscular dystrophy was first described in the 1830s by Charles Bell. The word "dystrophy" comes from the Greek dys, meaning "no, un-" and troph- meaning "nourish".
referencePosted on 30 Apr 2022, this text provides information on Miscellaneous in Medical related to Medical. Please note that while accuracy is prioritized, the data presented might not be entirely correct or up-to-date. This information is offered for general knowledge and informational purposes only, and should not be considered as a substitute for professional advice.
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