Cylindrical spirals myopathy
Alternate names
Myotonic myopathy with cylindrical spirals
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.
NIH genetic and rare disease info
Cylindrical spirals myopathy is a rare disease.
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