Charcot-Marie-Tooth disease type 1A
ORPHA: 101081
Overview
Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)
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 1A, sourced from HPO and Orphanet clinical annotations.
HyporeflexiaGait disturbancePes cavusDistal muscle weaknessDistal sensory impairmentSkeletal muscle atrophyDecreased motor nerve conduction velocityDecreased sensory nerve conduction velocityProximal muscle weaknessDemyelinating peripheral neuropathySensory ataxiaGait imbalanceKyphoscoliosisParesthesiaAcute demyelinating polyneuropathyCalf muscle hypertrophyDiaphragmatic weaknessSpontaneous pain sensationShoulder painHyperactive deep tendon reflexes
Classification & Codes
Orphanet Code
ORPHA:101081Charcot-Marie-Tooth disease type 1A
| Orphanet | ORPHA:101081 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO