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