cylindrical spirals myopathy https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy https://www.malacards.org/card/cylindrical_spirals_myopathy https://www.malacards.org/card/myotonic_myopathy_with_cylindrical_spirals Orphanet:171886 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. OMIM:160990 DOID:0080103 GARD:0011906 MESH:C563535 icd11.foundation:1555346098 UMLS:C1834418 myotonic myopathy with cylindrical spirals SCTID:764525006 MEDGEN:371817 MONDO:0008058 congenital myopathy