Charcot-Marie-Tooth disease X-linked recessive 4
ORPHA: 101078
Overview
Charcot-Marie-Tooth disease X-linked that has material basis in mutation in the AIFM1 gene on chromosome Xq26
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 recessive 4, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentDecreased nerve conduction velocitySensory neuropathyIntellectual disabilityAtaxiaAreflexiaGait disturbanceTremorPes cavusSleep disturbanceDistal muscle weaknessScoliosisKyphosisSkeletal muscle atrophySensorimotor neuropathyImpaired pain sensation
Classification & Codes
Orphanet Code
ORPHA:101078Charcot-Marie-Tooth disease X-linked recessive 4
| Orphanet | ORPHA:101078 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO