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DNAJB6-related limb-girdle muscular dystrophy D1

Disease definition

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.

ORPHA:34516

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant limb-girdle muscular dystrophy type 1D
    • DNAJB6-related LGMD D1
    • LGMD type 1D
    • LGMD1D
    • Limb-girdle muscular dystrophy type 1D
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G71.0
  • OMIM: 603511
  • UMLS: C3501858
  • MeSH: -
  • GARD: 12528
  • MedDRA: -

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