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autosomal dominant cerebellar ataxia, deafness and narcolepsy

ORPHA: 314404

Contents

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

Overview

Human disease

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 autosomal dominant cerebellar ataxia, deafness and narcolepsy, sourced from HPO and Orphanet clinical annotations.

Sensorineural hearing impairmentCataplexyOptic atrophyAbnormality of mitochondrial metabolismUrinary incontinenceCataractNystagmusDepressionSensory neuropathyAtaxiaSpasticityMental deteriorationCerebellar atrophyHyperreflexiaCerebral atrophyPseudobulbar signsResting tremorHead tremorMemory impairmentPrimitive reflexAbnormal cerebral white matter morphologyNeuronal loss in central nervous systemAbnormal cerebrospinal fluid morphologyBabinski signPredominantly lower limb lymphedemaDilated third ventricleAtrophy/Degeneration affecting the brainstemPeripheral neuropathy

Classification & Codes

Orphanet Code

ORPHA:314404
autosomal dominant cerebellar ataxia, deafness and narcolepsy
OrphanetORPHA:314404
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal dominant cerebellar ataxia, deafness and narcolepsy | OrphanDrug