Myoclonus-cerebellar ataxia-deafness syndrome
ORPHA:2589· ICD-10 G11.1
Definition
A rare genetic developmental defect during embryogenesis characterized by progressive childhood/early adulthood-onset sensorineural hearing loss (which may be bilateral), adolescence-onset myoclonus, provoked by light and bright colors and cerebellar ataxia (manifests as gait instability, and intention tremor). Generalized tonic-clonic seizures may also be present. There have been no further descriptions in the literature since 1984.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood