Charcot-Marie-Tooth disease X-linked dominant 6
ORPHA: 352675
Overview
Charcot-Marie-Tooth disease X-linked that has material basis in mutation in the PDK3 gene on chromosome Xp22
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 X-linked dominant 6, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityGait disturbancePes cavusHand tremorDistal sensory impairmentAbsent Achilles reflexEMG: axonal abnormalitySensorimotor neuropathyLower limb muscle weaknessDistal lower limb amyotrophyImpaired vibration sensation in the lower limbsElevated circulating creatine kinase concentrationSteppage gaitThenar muscle atrophySensorineural hearing impairmentMotor delay
Classification & Codes
Orphanet Code
ORPHA:352675Charcot-Marie-Tooth disease X-linked dominant 6
| Orphanet | ORPHA:352675 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO