x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

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

Cylindrical spirals myopathy

Disease definition

Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.

ORPHA:171886

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: G71.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 11906
  • MedDRA: -

Additional information

Further information on this disease

Health care resources for this disease

Research activities on this disease

Specialised Social Services

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.