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Start free with EleplanAutosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
ORPHA:324611Disease
Also called CMT2 due to KIF5A mutation
What it is
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
Key facts
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-5 / 10 000 (Europe)Autosomal dominant Charcot-Marie-Tooth disease type 2
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.
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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