What is Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3?
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Other condition names
Alpha-sarcoglycan-related LGMD R3
Autosomal recessive limb-girdle muscular dystrophy type 2D
LGMD due to alpha-sarcoglycan deficiency
LGMD type 2D
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency