Orphanet: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Disease definition

A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.


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: -
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.