fragile X-associated tremor/ataxia syndrome

MeSH: C564105ORPHA: 93256

Contents

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

Overview

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia

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 fragile X-associated tremor/ataxia syndrome, sourced from HPO and Orphanet clinical annotations.

DementiaAtaxiaDysarthriaGait disturbanceDysmetriaGait ataxiaIntention tremorCerebral cortical atrophyMemory impairmentInertiaAgitationDepressionCompulsive behaviorsIrritabilityAnxietyImpotenceHyporeflexiaMuscle weaknessRigidityPostural instabilityUrinary bladder sphincter dysfunctionLower limb muscle weaknessPeripheral neuropathyUbiquitin-positive cerebral inclusion bodiesAbnormal autonomic nervous system physiologyDysesthesiaDiffuse cerebellar atrophyPollakisuriaHypothyroidismHypertensionParkinsonismDysphagiaBradykinesiaAbnormal brainstem morphologyBowel incontinenceHypotensionMyalgia

Classification & Codes

MeSH Code

C564105

Orphanet Code

ORPHA:93256

fragile X-associated tremor/ataxia syndrome

MeSH	`C564105`
Orphanet	`ORPHA:93256`
Treatments	0 drug(s)
Symptoms on record	37 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO