Cylindrical spirals myopathy
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 171886
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Carmel, IN, 46082, United States Phone: +1-317-615-9140 Email: info@mdff.org Url: https://mdff.org/ MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana. Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
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