Muscular Dystrophies, Limb-Girdle

Bäcken-skuldergördelmuskeldystrofier

Svensk definition

En heterogen grupp ärftliga muskeldystrofier som kan vara antingen autosomalt dominanta eller autosomalt recessiva. Det finns många former som inbegriper gener, vilka kodar för muskelmembranproteiner som t ex sarkoglykankomplexet, som samverkar med dystrofin. Sjukdomstillståndet kännetecknas av fortskridande förtvining och svaghet hos armarnas och benens proximala muskler kring höfter och skuldror.

Engelsk definition

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).

Svenska synonymer

LGMD

Engelska synonymer

Muscular Dystrophies, Limb Girdle Myopathic Limb-Girdle Syndrome Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Limb Girdle Limb-Girdle Syndrome Limb-Girdle Muscular Dystrophies Limb Girdle Muscular Dystrophies Limb-Girdle Muscular Dystrophy Limb Girdle Muscular Dystrophy