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Autosomal dominant limb-girdle muscular dystrophy type 1C

Disease definition

Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C.

ORPHA:265

  • Synonym(s):
    • LGMD1C
    • Limb-girdle muscular dystrophy due to caveolin-3 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.0
  • OMIM: 606072  607801
  • UMLS: C1832567
  • MeSH: -
  • GARD: 12527
  • MedDRA: -

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