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Myoclonus-cerebellar ataxia-deafness syndrome

Disease definition

This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.

ORPHA:2589

Classification level: Disorder
  • Synonym(s): -
  • 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

Additional information

Further information on this disease

Health care resources for this disease

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