Charcot-Marie-Tooth disease type 2B1
MeSH: C537990ORPHA: 98856
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22
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 2B1, sourced from HPO and Orphanet clinical annotations.
Distal sensory impairmentDecreased number of peripheral myelinated nerve fibersSensory axonal neuropathyAxonal lossEMG: axonal abnormalityMotor axonal neuropathyDecreased amplitude of sensory action potentialsDistal lower limb muscle weaknessAxonal degenerationAreflexiaAbnormal foot morphologyPes cavusHammertoeDistal muscle weaknessSteppage gaitDecreased number of large peripheral myelinated nerve fibersDistal amyotrophyProximal muscle weaknessDistal upper limb amyotrophyProximal lower limb amyotrophyDistal upper limb muscle weaknessProximal lower limb muscle weaknessPeroneal muscle atrophyHand muscle atrophyToe extensor amyotrophyHand muscle weaknessInability to walkShoulder girdle muscle atrophyProximal amyotrophyDecreased number of small peripheral myelinated nerve fibersPelvic girdle muscle atrophyDecreased motor nerve conduction velocity
Classification & Codes
MeSH Code
C537990Orphanet Code
ORPHA:98856Charcot-Marie-Tooth disease type 2B1
| MeSH | C537990 |
| Orphanet | ORPHA:98856 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO