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autosomal recessive spinocerebellar ataxia 2

MeSH: C565865ORPHA: 1170

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 2, sourced from HPO and Orphanet clinical annotations.

Gaze-evoked nystagmusDelayed speech and language developmentIntellectual disabilityAtaxiaDysarthriaGlobal developmental delayDysmetriaGait ataxiaDelayed ability to walkOculomotor apraxiaHypotoniaCerebellar atrophyMuscle weaknessBrisk reflexesPes planusIncoordinationDiffuse cerebral atrophyCerebellar vermis atrophyProgressive psychomotor deteriorationCognitive impairmentOphthalmoplegiaSpasticityTremorDilated fourth ventricleEnlarged cisterna magnaLactic acidosisShort staturePeripheral neuropathyImpaired visuospatial constructive cognition

Classification & Codes

MeSH Code

C565865

Orphanet Code

ORPHA:1170
autosomal recessive spinocerebellar ataxia 2
MeSHC565865
OrphanetORPHA:1170
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO