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recessive mitochondrial ataxia syndrome

ORPHA: 94125

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 recessive mitochondrial ataxia syndrome, sourced from HPO and Orphanet clinical annotations.

OphthalmoplegiaAtypical behaviorHashimoto thyroiditisSeizureAtaxiaAreflexiaGait disturbanceGeneralized hypotoniaDysmetriaDysphagiaHeadachePositive Romberg signLimb dysmetriaImpaired vibratory sensationSensory axonal neuropathyIncreased circulating pyruvate concentrationPeripheral neuropathyAbnormality of central motor conductionST segment elevationAbnormality of movementCognitive impairmentDysarthria

Classification & Codes

Orphanet Code

ORPHA:94125
recessive mitochondrial ataxia syndrome
OrphanetORPHA:94125
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO