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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2589
This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.
So far, less than 10 cases have been reported in the literature.
The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence.
Transmission appears to be autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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