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Polyglucosan body myopathy type 2

Disease definition

A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.

ORPHA:456369

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult, Elderly
  • ICD-10: E74.0
  • OMIM: 616199
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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