myoclonus-cerebellar ataxia-deafness syndrome
MONDO:0008043Mondo
Findings
No curated finding names myoclonus-cerebellar ataxia-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0008043), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Areflexia of lower limbsHPOHP:0002522
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- EMG: neuropathic changesHPOHP:0003445
- Frequent (30% to 79% of cases)
- Generalized amyotrophyHPOHP:0003700
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
Where it sits
- A kind of