Charcot-Marie-Tooth disease axonal type 2F

MeSH: C535413ORPHA: 999402 Treatments Available

Contents

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

Overview

Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)

Available Treatments (2)

Drug	Form	Status	Countries	Lead Time
gabapentin	Oral capsule 100mg, 300mg, 400mg; Oral tablet 600mg, 800mg; Oral solution 250mg/5mL	FDA Approved, EMA Approved	11	3d
pregabalin	oral capsule 25mg, 50mg, 75mg, 100mg, 150mg, 200mg, 225mg, 300mg; oral solution 20mg/mL	FDA Approved	10	5d

Clinical Presentation

Signs and symptoms associated with Charcot-Marie-Tooth disease axonal type 2F, sourced from HPO and Orphanet clinical annotations.

Reduced tendon reflexesTalipes equinovarusSteppage gaitEMG: chronic denervation signsEMG: neuropathic changesPeripheral axonal neuropathyLimb fasciculationsImpaired pain sensationLower limb muscle weaknessDistal lower limb amyotrophyUpper limb amyotrophyImpaired temperature sensation

Classification & Codes

MeSH Code

C535413

Orphanet Code

ORPHA:99940

Charcot-Marie-Tooth disease axonal type 2F

MeSH	`C535413`
Orphanet	`ORPHA:99940`
Treatments	2 drug(s)
Symptoms on record	12 signs
Status	published

Treatment Summary

gabapentin pregabalin

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO