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Autosomal dominant limb-girdle muscular dystrophy type 1A

Disease definition

A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

ORPHA:266

Classification level: Disorder
  • Synonym(s):
    • LGMD1A
    • Limb-girdle muscular dystrophy due to myotilin deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Elderly, Adult
  • ICD-10: G71.0
  • OMIM: 159000  609200
  • UMLS: C1834659
  • MeSH: -
  • GARD: 10229
  • MedDRA: -

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