![]() ![]() Muscular dystrophy was first described in the 1830s by Charles Bell. Many affected people will eventually become unable to walk and Duchenne muscular dystrophy in particular is associated with shortened life expectancy. Outcomes depend on the specific type of disorder. Physical therapy, braces, and corrective surgery may help with some symptoms while assisted ventilation may be required in those with weakness of breathing muscles. Other medications used include corticosteroids ( Deflazacort), calcium channel blockers ( Diltiazem) to slow skeletal and cardiac muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants ( Vamorolone) to delay damage to dying muscle cells. Several drugs designed to address the root cause are under development, including gene therapy ( Microdystrophin), and antisense drugs ( Ataluren, Eteplirsen etc.). There is no cure for any disorder from the muscular dystrophy group. ![]() Diagnosis often involves blood tests and genetic testing. Muscular dystrophies may be X-linked recessive, autosomal recessive, or autosomal dominant. These mutations are either inherited from parents or may occur spontaneously during early development. Respiratory and cardiac complications can occur as well. Dystrophin is an integral part of the muscular structure, an absence of dystrophin can cause impairments such as: healthy muscle tissue can be replaced by fibrous tissue and fat, causing inability to generate force. It links the muscle membrane to the thin muscular filaments within the cell. The muscle protein, dystrophin, is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax. Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. 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. Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Over 30 different disorders are classified as muscular dystrophies. Some types are also associated with problems in other organs. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Muscular dystrophies ( MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. Pharmacotherapy, physical therapy, braces, corrective surgery, assisted ventilation Genetic ( X-linked recessive, autosomal recessive, or autosomal dominant) > 30, including Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb–girdle muscular dystrophy, myotonic dystrophy Increasing weakening, breakdown of skeletal muscles, trouble walking In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle (left). ![]()
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