/autosomal recessive limb-girdle muscular dystrophy type 2E

autosomal recessive limb-girdle muscular dystrophy type 2E

Rare Disease

MONDO:0011423

Also Known As

beta-sarcoglycanopathyLGMD due to beta-sarcoglycan deficiencyLGMD type 2ELGMD2ELGMDR4SGCB autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCBautosomal recessive limb-girdle muscular dystrophy type 2Ebeta-sarcoglycan-related LGMD R4beta-sarcoglycan-related limb-girdle muscular dystrophy R4limb-girdle muscular dystrophy due to beta-sarcoglycan deficiencylimb-girdle muscular dystrophy type 2Emuscular dystrophy, limb-girdle, autosomal recessive 4muscular dystrophy, limb-girdle, type 2Ebeta-sarcoglycan limb-girdle muscular dystrophymuscular dystrophy limb-girdle with beta-sarcoglycan deficiency

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.