" /> Chiari malformation type I - CISMeF





Preferred Label : Chiari malformation type I;

CISMeF acronym : CM1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : CM1;

Included titles and symbols : Chiari malformation type I with syringomyelia; Cm1 with syringomyelia;

Description : Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000).;

Inheritance : Autosomal dominant;

Prefixed ID : %118420;

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29/07/2025


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