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

MONDO:0021018

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.

Also known as: DNAJB6 autosomal dominant limb-girdle muscular dystrophy, LGMD1D, LGMD1D (DNAJB6), autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6, muscular dystrophy, limb-girdle, autosomal dominant 1, LGMD1E, LGMD1E (Bushby and Beckmann, 2003), autosomal dominant limb-girdle muscular dystrophy type 1D

41 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscular dystrophy (68) Muscle tissue disorder (53) Human disease (14) Limb-girdle muscular dystrophy (13) Myopathy (11)
Trials to join now! 20 Not yet recruiting 8 Not yet finished but already full! 4 Completed 8 Terminated 1
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