autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016153
neuromuscular disease caused by qualitative or quantitative defects of TRIM32
is_a
LGMD2H
exact
Sarcotubular myopathy
exact
TRIM32 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32
exact
autosomal recessive limb-girdle muscular dystrophy type 2H
exact
limb-girdle muscular dystrophy due to TRIM32 deficiency
exact
limb-girdle muscular dystrophy type 2H
related
muscular dystrophy limb-girdle type 2H
related
muscular dystrophy, limb-girdle, autosomal recessive 8
exact
muscular dystrophy, limb-girdle, type 2H
related
sarcotubular myopathy
exact