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

NIH info on Cylindrical spirals myopathy

Cylindrical spirals myopathy is a rare disease.

Resources

Frequently asked questions

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Cylindrical spirals myopathy
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