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Start free with EleplanCharcot-Marie-Tooth disease type 4
ORPHA:64749Clinical group
Also called AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth · CMT4
What it is
A group of autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT) characterized by progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. CMT4 is usually more severe than other forms of CMT, and the onset occurs earlier.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Clinical group
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 12 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.
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