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cylindrical spirals myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cylindrical spirals myopathy

MONDO:0008058

Also known as:myotonic myopathy with cylindrical spirals

Overview

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.

ResearchLimited published research (2 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cylindrical spirals myopathy.

2 publications have been identified in PubMed for cylindrical spirals myopathy. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome Med*. [Basic Science / Preclinical]
Baille G (2024). [PMID: 40017288](https://pubmed.ncbi.nlm.nih.gov/40017288/). *Acta Myol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 8:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:160990

Orphanet

European rare disease database

Orphanet:171886

GARD

Genetic and Rare Diseases Info Center

GARD:11906

Questions for Your Care Team

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cylindrical spirals myopathy

Overview

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team