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Start free with EleplanCharcot-Marie-Tooth disease type 1E
ORPHA:90658Disease
Also called CMT1E · Charcot-Marie-Tooth disease-deafness syndrome · Charcot-Marie-Tooth disease-hearing loss syndrome
What it is
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-5 / 10 000Charcot-Marie-Tooth disease type 1
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%
20- Abnormality of pain sensation
- Abnormal pupil morphology
- Acroparesthesia
- Areflexia of lower limbs
- Calf muscle hypoplasia
- Distal lower limb amyotrophy
- Foot dorsiflexor weakness
- Hand muscle atrophy
- Hand muscle weakness
- Hyporeflexia of lower limbs
- Hyporeflexia of upper limbs
- Impaired tactile sensation
- Impaired temperature sensition
- Impaired vibration sensation in the lower limbs
- Peroneal muscle atrophy
- Peroneal muscle weakness
- Pes cavus
- Postural instability
- Slow pupillary light response
- Tonic pupil
Sometimes5–29%
13- Anisocoria
- Cough
- Equinovarus deformity
- Gait imbalance
- Global developmental delay
- Hammertoe
- Inability to walk
- Joint contracture of the hand
and 5 more in this range
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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