Orphanet: Myoclonus cerebellar ataxia deafness syndrome

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Myoclonus-cerebellar ataxia-deafness syndrome

ORPHA:2589

Classification level: Disorder

Synonym(s):
- Myoclonus-cerebellar ataxia-hearing loss syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: G11.1
OMIM: 159800
UMLS: C1834579
MeSH: -
GARD: 3873
MedDRA: -

Summary

Epidemiology

So far, less than 10 cases have been reported in the literature.

Clinical description

The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence.

Genetic counseling

Transmission appears to be autosomal dominant.

- Last update: July 2008

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