autosomal recessive limb-girdle muscular dystrophy type 2I
A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016156
qualitative or quantitative defects of FKRP
is_a
MONDO:0700066
myopathy caused by variation in FKRP
is_a
FKRP autosomal recessive limb-girdle muscular dystrophy
exact
LGMD-FKRP related
exact
LGMD2I
exact
MDDGC5
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP
exact
limb-girdle muscular dystrophy due to FKRP deficiency
exact
limb-girdle muscular dystrophy type 2I
related
muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5
exact
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C5
exact