Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2E
Definition
Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB, autosomal recessive limb-girdle muscular dystrophy type 2E, beta-sarcoglycan-related LGMD R4, beta-sarcoglycan-related limb-girdle muscular dystrophy R4, LGMD due to beta-sarcoglycan deficiency, LGMD type 2E, LGMD2E, LGMDR4, limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, limb-girdle muscular dystrophy type 2E, muscular dystrophy, limb-girdle, autosomal recessive 4, muscular dystrophy, limb-girdle, type 2E, SGCB autosomal recessive limb-girdle muscular dystrophy — per MONDO