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autosomal recessive spinocerebellar ataxia 17

ORPHA: 453521

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 recessive spinocerebellar ataxia 17, sourced from HPO and Orphanet clinical annotations.

Oculomotor apraxiaSynophrysHorizontal nystagmusDelayed speech and language developmentDysarthriaGlobal developmental delayDysmetriaCerebellar vermis hypoplasiaDystoniaSlurred speechGait ataxiaTruncal ataxiaIntention tremorClumsinessUnsteady gaitModerate intellectual disabilityFrequent fallsNonprogressive cerebellar ataxiaBabinski signFloppy infantAbnormality of the distal phalanx of the thumbMonotonic speechMild microcephalyAgenesis of corpus callosum

Classification & Codes

Orphanet Code

ORPHA:453521
autosomal recessive spinocerebellar ataxia 17
OrphanetORPHA:453521
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO