Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie- Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Increased urinary cortisol level|
|Massively thickened long bone cortices|
|Elevated serum 11-deoxycortisol|
|Neutrophil nuclear clefts|
|Abnormality of neutrophil morphology|
|Aplasia/Hypoplasia of the abdominal wall musculature|
|Trophic changes related to pain|
|Abnormality of the femoral neck or head region|
|Unilateral alveolar cleft of maxilla|
|Generalized myoclonic seizures|
|Decreased motor nerve conduction velocity|
|Foot dorsiflexor weakness|
|Color vision defect|
|Limb muscle weakness|
|Telangiectasia of extensor surfaces|
|Autosomal dominant inheritance|
|Distal muscle weakness|
|Distal sensory impairment|
|Sensorineural hearing impairment|
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