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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: DisorderSummary
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.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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