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autosomal dominant limb-girdle muscular dystrophy type 1G

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
Uniprot Description An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD1G is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50.
Mondo Term and Equivalent IDs
MONDO:0012193:  autosomal dominant limb-girdle muscular dystrophy type 1G
GARD:0012531: 
MESH:C563794: 
Orphanet:55596: 
SCTID:719990003: