OrphanDrug
OrphanDrug
Pharma Knowledge Base

giant axonal neuropathy

MeSH: D056768ORPHA: 643

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 giant axonal neuropathy, sourced from HPO and Orphanet clinical annotations.

AreflexiaGeneralized hypotoniaJoint hypermobilityPili canaliculiDiffuse axonal swellingCNS hypomyelinationProximal muscle weaknessAbnormal Achilles tendon morphologyIntellectual disabilitySpasticityAbnormal cerebellum morphologyPes cavusTalipes equinovarusWoolly hairUnsteady gaitDistal muscle weaknessScoliosisDistal sensory impairmentAbnormal hand morphologyFacial palsyFallsGenu valgumBabinski signLimb muscle weaknessAbnormal pituitary gland morphologyGait disturbance

Classification & Codes

MeSH Code

D056768

Orphanet Code

ORPHA:643
giant axonal neuropathy
MeSHD056768
OrphanetORPHA:643
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO