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Charcot-Marie-Tooth disease, axonal type 2W

ORPHA: 488333

Contents

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

Overview

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the HARS gene on chromosome 5q31

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 Charcot-Marie-Tooth disease, axonal type 2W, sourced from HPO and Orphanet clinical annotations.

Impaired vibration sensation in the lower limbsSomatic sensory dysfunctionDemyelinating peripheral neuropathyDistal upper limb muscle weaknessDistal lower limb muscle weaknessGait disturbanceBrisk reflexesAbnormal foot morphologyPes cavusSteppage gaitMotor axonal neuropathyHammertoeSlender long boneAbsent Achilles reflexImpaired distal tactile sensationImpaired pain sensationIntrinsic hand muscle atrophyPainTip-toe gaitHand muscle weakness

Classification & Codes

Orphanet Code

ORPHA:488333
Charcot-Marie-Tooth disease, axonal type 2W
OrphanetORPHA:488333
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO