autosomal recessive limb-girdle muscular dystrophy type 2E
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.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016142
qualitative or quantitative defects of beta-sarcoglycan
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
LGMD due to beta-sarcoglycan deficiency
exact
LGMD type 2E
exact
LGMD2E
exact
LGMDR4
exact
SGCB autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB
exact
autosomal recessive limb-girdle muscular dystrophy type 2E
exact
beta-sarcoglycan limb-girdle muscular dystrophy
related
beta-sarcoglycan-related LGMD R4
exact
beta-sarcoglycan-related limb-girdle muscular dystrophy R4
exact
beta-sarcoglycanopathy
broad
limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
exact
limb-girdle muscular dystrophy type 2E
exact
muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
related
muscular dystrophy, limb-girdle, autosomal recessive 4
exact
muscular dystrophy, limb-girdle, type 2E
exact