autosomal dominant limb-girdle muscular dystrophy type 1G

Rare Disease

MONDO:0012193

Also Known As

HNRNPDL autosomal dominant limb-girdle muscular dystrophyLGMD1Gautosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDLmuscular dystrophy limb-girdle type 1Gmuscular dystrophy, limb-girdle, autosomal dominant 3limb-girdle muscular dystrophy type 1Glimb-girdle muscular dystrophy, type 1G

Definition

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.