Cylindrical spirals myopathy

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.

Disease data

Classification

Disease

ORPHA code

171886

OMIM code

ICD10 code

G71.2

ICD11 code

8C72.0Y

*Soruce