Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanX-linked Charcot-Marie-Tooth disease
ORPHA:64747Clinical group
Also called CMTX · X-linked hereditary motor and sensory neuropathy
What it is
A group of rare genetic peripheral neuropathies characterized by slowly progressive sensory-motor involvement leading to muscle weakness, atrophy and sensory loss, mainly affecting the distal limbs.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Inheritance
- X-linked dominant, X-linked recessive
- Classified as
- Clinical group
Recorded for the broader condition
- Age of onset
- All agesCharcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Genes reported in subtypes
Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.