autosomal dominant Charcot-Marie-tooth disease type 2K
ORPHA: 99944
Overview
Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy
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 autosomal dominant Charcot-Marie-tooth disease type 2K, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityGait disturbanceDistal muscle weaknessDistal sensory impairmentSkeletal muscle atrophyProximal muscle weaknessHand muscle atrophyPeripheral demyelinationArrhythmiaMotor delay
Classification & Codes
Orphanet Code
ORPHA:99944autosomal dominant Charcot-Marie-tooth disease type 2K
| Orphanet | ORPHA:99944 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO