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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

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