Cylindrical spirals myopathy

MONDO:0008058

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.

Also known as: myotonic myopathy with cylindrical spirals

4 clinical trials for this condition and its sub-types, 0 tagged with Cylindrical spirals myopathy itself.

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↑ Congenital myopathy (75)

Including sub-types (4) Tagged with Cylindrical spirals myopathy (0)

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