Autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal recessive limb-girdle muscular dystrophy 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.
Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES, autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, BVES autosomal recessive limb-girdle muscular dystrophy, LGMD2X, muscular dystrophy, limb-girdle, autosomal recessive 25, muscular dystrophy, limb-girdle, type 2X — per MONDO