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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: C566370
  • GARD: 12528
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Detailed information

General public

Guidelines

Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.