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myoclonus-cerebellar ataxia-deafness syndrome

MeSH: C563549ORPHA: 2589

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with myoclonus-cerebellar ataxia-deafness syndrome, sourced from HPO and Orphanet clinical annotations.

DysarthriaMyoclonusProgressive cerebellar ataxiaIntention tremorAreflexia of lower limbsEMG: neuropathic changesGeneralized amyotrophySensorimotor neuropathyProgressive gait ataxiaBilateral sensorineural hearing impairment

Classification & Codes

MeSH Code

C563549

Orphanet Code

ORPHA:2589
myoclonus-cerebellar ataxia-deafness syndrome
MeSHC563549
OrphanetORPHA:2589
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO