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X-linked progressive cerebellar ataxia

MeSH: C563134ORPHA: 1175

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 X-linked progressive cerebellar ataxia, sourced from HPO and Orphanet clinical annotations.

Progressive cerebellar ataxiaNystagmusSaccadic smooth pursuit interruptionsMotor delayDysmetriaHyperreflexiaPes cavusLimb ataxiaDysdiadochokinesisIntention tremorClumsinessUnsteady gaitFrequent fallsSpastic dysarthriaSpinocerebellar tract degenerationScoliosisEMG: neuropathic changesAxonal lossCerebellar vermis atrophySensorimotor neuropathyProgressive gait ataxiaDistal lower limb amyotrophyDecreased/absent ankle reflexesLower limb hyperreflexiaBabinski signFoot dorsiflexor weakness

Classification & Codes

MeSH Code

C563134

Orphanet Code

ORPHA:1175
X-linked progressive cerebellar ataxia
MeSHC563134
OrphanetORPHA:1175
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
X-linked progressive cerebellar ataxia | OrphanDrug