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Duchenne muscular dystrophy
Du·chenne muscular dystrophy D0411750 (do͞o-shĕn′)n. A severe form of muscular dystrophy that begins in early childhood and almost exclusively affects males, characterized by progressive weakening of the muscles and usually leading to death from respiratory or cardiac failure. It is caused by lack of the protein dystrophin in muscle cells as a result of a recessive genetic mutation on the X chromosome.
[After Guillaume B.A. Duchenne (1806-1875), French physician.]EncyclopediaSeeDMDDuchenne muscular dystrophy
Du·chenne dys·tro·phy (dū-shen'), the most common childhood muscular dystrophy, with onset usually before age 6 years. Characterized by symmetric weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). Synonym(s): childhood muscular dystrophy, Duchenne disease, Duchenne muscular dystrophy, pseudohypertrophic muscular dystrophyDuchenne muscular dystrophy (do͞o-shĕn′)n. A severe form of muscular dystrophy that begins in early childhood and almost exclusively affects males, characterized by progressive weakening of the muscles and usually leading to death from respiratory or cardiac failure. It is caused by lack of the protein dystrophin in muscle cells as a result of a recessive genetic mutation on the X chromosome.Duchenne muscular dystrophy An X-R disease caused by a deficiency of a muscle protein, dystrophin, which affects 1:3500 ♂, resulting in progressive muscular atrophy, wasting, and death by age 20, often related to respiratory–due to compromised diaphragm activity, or cardiac failure; calf and deltoid muscles display the typical finding of pseudohypertrophy. See Climbing up on oneself, Dystrophin, Pseudohypertrophy. Duchenne muscular dystrophy A hereditary, X-linked RECESSIVE muscle disorder affecting males almost exclusively. It begins in the first three years of life and first affects the legs and buttocks. Usually, the muscles appear larger than normal (pseudo-hypertrophy) but are in fact very weak. The condition spreads to affect other muscles and death is usual between the age of 20 and 30. See also DYSTROPHIN. (Guillaume Benjamin Amand Duchenne, 1805–75, French neurologist).Duchenne muscular dystrophy (DMD)The most severe form of muscular dystrophy, DMD usually affects young boys and causes progressive muscle weakness, usually beginning in the legs.Mentioned in: Muscular DystrophyAcronymsSeedystrophin |