Charcot-Marie-Tooth disease type 1B
ORPHA: 101082
Overview
Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the gene encoding myelin protein zero (MPZ)
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 1B, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessHearing impairmentAbnormal pupil morphologyDecreased nerve conduction velocityAreflexiaScoliosisIncreased CSF protein concentrationSkeletal muscle atrophyElevated circulating creatine kinase concentrationPeripheral dysmyelinationPeripheral axonal neuropathySkeletal muscle hypertrophyMotor delaySomatic sensory dysfunction
Classification & Codes
Orphanet Code
ORPHA:101082Charcot-Marie-Tooth disease type 1B
| Orphanet | ORPHA:101082 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO