Svensk definition
En X-kopplad recessiv muskelsjukdom, orsakad av oförmåga att syntetisera dystrofin, som behövs för ett intakt sarkolemma (muskeltrådshölje). Muskelfibrer genomgår en nedbrytnings- och återuppbyggnadsprocess. Till den kliniska bilden hör proximal svaghet under de första åren av livet, pseudohypertrofi, hjärtmuskelsjukdom och tilltagande försämring av tankeförmågan. Beckers muskeldystrofi är ett snarlikt tillstånd, men med senare debut (oftast under tonåren) och långsamt fortskridande förlopp.
Engelsk definition
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Svenska synonymer
Beckers muskeldystrofi — BMD — Duchennes förlamning — Duchenne-Beckers myskeldystrofi — Pseudohypertrofisk muskeldystrofi
Engelska synonymer
Cardiomyopathy, Dilated, X-Linked — Childhood Muscular Dystrophy, Pseudohypertrophic — Childhood Pseudohypertrophic Muscular Dystrophy — Duchenne Muscular Dystrophy — Duchenne-Type Progressive Muscular Dystrophy — Duchenne Type Progressive Muscular Dystrophy — Muscular Dystrophy, Childhood, Pseudohypertrophic — Muscular Dystrophy, Duchenne Type — Muscular Dystrophy, Pseudohypertrophic — Pseudohypertrophic Muscular Dystrophy — Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type — Muscular Dystrophy, Pseudohypertrophic, Childhood — Progressive Muscular Dystrophy, Duchenne Type — Pseudohypertrophic Childhood Muscular Dystrophy — Pseudohypertrophic Muscular Dystrophy, Childhood — Cardiomyopathy, Dilated, 3B — Duchenne and Becker Muscular Dystrophy — Muscular Dystrophy, Duchenne and Becker Types — Duchenne-Becker Muscular Dystrophy — Duchenne Becker Muscular Dystrophy — Muscular Dystrophy, Duchenne-Becker — Becker Muscular Dystrophy — Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type — Muscular Dystrophy, Becker — Muscular Dystrophy, Becker Type — Becker's Muscular Dystrophy — Muscular Dystrophy, Becker's — Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type