Cylindrical spirals myopathy: Difference between revisions

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Latest revision as of 08:00, 4 February 2025

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.

Rare and genetic diseases

Rare diseases - Cylindrical spirals myopathy

A-Z list of rare diseases
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Cylindrical spirals myopathy

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