ORPHA:171886

Cylindrical spirals myopathy

Type: Disease
Group: Disorder
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cylindrical spirals myopathy
fr	Myopathie à spirales cylindriques
de	Myopathie mit zylindrischen Spiralen
es	Miopatía con espirales cilindricas
it	Miopatia a spirali cilindriche
nl	Myopathie met cilindrische spiralen
pt	Miopatia de espirais cilíndricas
pl	Miopatia z cylindrycznymi spiralami
cs	Myopatie s cylindrickými spirálami
uk	Циліндрична спіральна міопатія
zh	柱状螺旋体肌病
tr	Silindirik spiraller miyopati

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	G71.2	NTBT	attributed	validated
ICD-11	8C72.0Y	NTBT	index	validated
MONDO	0008058	E		validated
UMLS	C4706943	E		validated
GARD	11906	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/171886
This record as JSON: /data/d/171886.json