autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Rare Disease

MONDO:0021018

Also Known As

DNAJB6 autosomal dominant limb-girdle muscular dystrophyLGMD1DLGMD1D (DNAJB6)autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6muscular dystrophy, limb-girdle, autosomal dominant 1LGMD1ELGMD1E (Bushby and Beckmann, 2003)autosomal dominant limb-girdle muscular dystrophy type 1Dautosomal dominant limb-girdle muscular dystrophy type 1Elimb-girdle muscular dystrophy type 1Dmuscular dystrophy limb-girdle type 1Dmuscular dystrophy limb-girdle type 1Emuscular dystrophy, limb-girdle, type 1Dmuscular dystrophy, limb-girdle, type 1D, formerlymuscular dystrophy, limb-girdle, type 1E

Definition

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.