Myoclonus cerebellar ataxia deafness

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2589

Definition

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

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.

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