Charcot-Marie-Tooth disease type 4D
MeSH: C535716ORPHA: 99950
Overview
Charcot-Marie-Tooth disease type 4 that has material basis in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24
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 4D, sourced from HPO and Orphanet clinical annotations.
Decreased motor nerve conduction velocityDecreased amplitude of sensory action potentialsDemyelinating peripheral neuropathyDistal lower limb muscle weaknessSensorineural hearing impairmentMotor delayAbnormal foot morphologyUnsteady gaitDistal muscle weaknessLower limb amyotrophySplit handPes cavusHammertoePostural tremorInability to walkKyphoscoliosisDistal sensory impairmentSomatic sensory dysfunctionProximal muscle weaknessDistal upper limb muscle weaknessUpper limb amyotrophySkewfoot
Classification & Codes
MeSH Code
C535716Orphanet Code
ORPHA:99950Charcot-Marie-Tooth disease type 4D
| MeSH | C535716 |
| Orphanet | ORPHA:99950 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO