Charcot-Marie-Tooth disease X-linked recessive 2
MeSH: C535302ORPHA: 101076
Overview
Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2
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 2, sourced from HPO and Orphanet clinical annotations.
AreflexiaGait disturbancePes cavusHand tremorDistal sensory impairmentSteppage gaitDecreased motor nerve conduction velocityEMG: chronic denervation signsDistal lower limb amyotrophyIntrinsic hand muscle atrophyFoot dorsiflexor weaknessDistal lower limb muscle weaknessTibialis anterior muscle atrophyPeroneal muscle weaknessHand muscle weaknessSensorineural hearing impairmentOptic disc pallorOptic neuropathyIntellectual disabilityHyporeflexiaHyperreflexiaSpastic paraparesisBabinski signHyperactive deep tendon reflexesSlow decrease in visual acuityClasp-knife sign
Classification & Codes
MeSH Code
C535302Orphanet Code
ORPHA:101076Charcot-Marie-Tooth disease X-linked recessive 2
| MeSH | C535302 |
| Orphanet | ORPHA:101076 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO