Charcot-Marie-Tooth disease axonal type 2F
MeSH: C535413ORPHA: 999401 Treatment Available
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 (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| 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
C535413Orphanet Code
ORPHA:99940Charcot-Marie-Tooth disease axonal type 2F
| MeSH | C535413 |
| Orphanet | ORPHA:99940 |
| Treatments | 1 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO