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Start free with EleplanCharcot-Marie-Tooth disease type 4G
ORPHA:99953Disease
Also called CMT4G · HMSNR · Hereditary motor and sensory neuropathy, Russe Type
What it is
A form of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities. It was mainly reported in European Roma communities due to founder variants.
Key facts
- Prevalence
- 1-5 / 10 000 (Czech Republic)
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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.
Signs and symptoms
Very common80–99%
12- Abnormal foot morphology
- Areflexia
- Decreased distal sensory nerve action potential
- Decreased motor nerve conduction velocity
- Demyelinating peripheral neuropathy
- Distal lower limb muscle weakness
- Distal sensory impairment
- Distal sensory impairment of all modalities
- Impaired vibratory sensation
- Motor conduction block
- Peripheral axonal neuropathy
- Peripheral demyelination
Common30–79%
10These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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