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Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Disease definition

Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.

ORPHA:88635

Classification level: Disorder
  • Synonym(s):
    • Myopathy due to calsequestrin and SERCA1 protein overload
    • Vacuolar aggregate myopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown or Autosomal dominant 
  • Age of onset: -
  • ICD-10: G71.8
  • OMIM: 616231
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in four individuals from different families.

Etiology

This myopathy is associated with an excess of the sarcoplasmic reticulum proteins, SERCA1 and calsequestrin.

- Last update: January 2007

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