Charcot-Marie-Tooth disease type 4C
ORPHA: 99949
Overview
Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SH3TC2 gene
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 4C, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceAbnormal foot morphologyDecreased number of peripheral myelinated nerve fibersDecreased motor nerve conduction velocityEMG: chronic denervation signsFunctional motor deficitDemyelinating peripheral neuropathySensorimotor neuropathyAreflexiaTongue fasciculationsPes cavusHammertoeGait ataxiaFrequent fallsDistal muscle weaknessScoliosisMyalgiaMuscle spasmDistal amyotrophyImpaired distal vibration sensationNeuropathic spinal arthropathyFoot dorsiflexor weaknessTongue muscle weaknessSensorineural hearing impairmentStrabismusAbnormal optic nerve morphologyNystagmusDiplopiaDysarthriaCerebellar atrophyHip dysplasiaFailure to thriveVocal cord paresisPes planusRespiratory insufficiencyDroolingHead tremorPositive Romberg signInability to walkHypoventilationFacial paralysisImpaired pain sensationAbnormal pupillary light reflexAnisocoriaSensory ataxiaTongue atrophyWeakness of facial musculatureOptic atrophyPeripheral visual field lossPes valgusTrigeminal neuralgia
Classification & Codes
Orphanet Code
ORPHA:99949Charcot-Marie-Tooth disease type 4C
| Orphanet | ORPHA:99949 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO