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Start free with EleplanAutosomal dominant Charcot-Marie-Tooth disease type 2A2
ORPHA:99947Disease
Also called CMT2A2
What it is
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
Key facts
- Age of onset
- Childhood
- 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.
Signs and symptoms
Very common80–99%
6Common30–79%
18- Abnormality of the hand
- Areflexia of lower limbs
- Difficulty climbing stairs
- Difficulty running
- Distal lower limb muscle weakness
- Distal sensory impairment
- Foot pain
- Frequent falls
- Hand muscle weakness
- Hand tremor
- Impaired pain sensation
- Impaired temperature sensition
- Impaired vibratory sensation
- Increased laxity of ankles
- Muscle spasm
- Paresis of extensor muscles of the big toe
- Pes cavus
- Poor fine motor coordination
These 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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