Charcot-Marie-Tooth disease type 4G
ORPHA: 99953
Overview
Charcot-Marie-Tooth disease type 4 that has material basis in homozygous mutation in the HK1 gene on chromosome 10q22
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 type 4G, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceImpaired tactile sensationGait imbalanceLoss of ambulationScoliosisImpaired pain sensationPes valgusAreflexiaAbnormal foot morphologyImpaired vibratory sensationDistal sensory impairmentDistal sensory impairment of all modalitiesDecreased motor nerve conduction velocityPeripheral axonal neuropathyDemyelinating peripheral neuropathyDecreased distal sensory nerve action potentialDistal lower limb muscle weaknessPeripheral demyelinationMotor conduction blockAbnormality of the handPes cavusTalipes equinovarusDistal amyotrophyProximal muscle weaknessLower limb amyotrophyDistal upper limb muscle weaknessUpper limb amyotrophy
Classification & Codes
Orphanet Code
ORPHA:99953Charcot-Marie-Tooth disease type 4G
| Orphanet | ORPHA:99953 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO