autosomal recessive limb-girdle muscular dystrophy type 2X

Rare Disease

MONDO:0014782

Also Known As

BVES autosomal recessive limb-girdle muscular dystrophyLGMD2Xautosomal recessive limb-girdle muscular dystrophy caused by mutation in BVESautosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndromemuscular dystrophy, limb-girdle, autosomal recessive 25muscular dystrophy, limb-girdle, type 2Xmuscular dystrophy, limb-girdle, type 2x

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.