has material basis in germline mutation in SGCA autosomal recessive limb-girdle muscular dystrophy type 2D https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2d https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_3 GARD:0000438 SCTID:715340002 OMIM:608099 DMDA2 LGMD2D limb-girdle muscular dystrophy, type 2D UMLS:C2936332 limb-girdle muscular dystrophy type 2D MEDGEN:424706 Alpha-sarcoglycanopathy NCIT:C142081 Orphanet:62 DOID:0110278 muscular dystrophy, limb-girdle, autosomal recessive 3 MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is 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. limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency SGCA autosomal recessive limb-girdle muscular dystrophy muscular dystrophy, limb-girdle, type 2D muscular dystrophy limb-girdle with alpha-sarcoglycan autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of alpha-sarcoglycan familial dilated cardiomyopathy