Living with Charcot-Marie-Tooth disease type 1E
An inherited nerve condition caused by PMP22 gene changes, usually starting between ages 5 and 25.
Understanding Charcot-Marie-Tooth disease type 1E
Signs usually appear between ages 5 and 25, but age and severity vary a lot. Typical features are slowly worsening weakness in the feet and ankles, foot drop, wasting of muscles below the knee, absent reflexes, and less sense of touch and temperature.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking
- Poor balance
- Absent reflexes in the legs
- Loss of feeling in the hands and feet
- Tingling pain in the hands and feet (acroparesthesia)
- Changes in the pupils
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PMP22 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hereditary Neuropathy Foundation Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PMP22 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: autosomal dominant charcot-marie-tooth neuropathy and deafness; charcot-marie-tooth disease and deafness; charcot-marie-tooth disease demyelinating type 1e; charcot-marie-tooth disease-deafness; charcot-marie-tooth disease-deafness syndrome; charcot-marie-tooth disease-hearing loss syndrome
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 1E · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 1E · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 1E · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 1E · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Charcot-Marie-Tooth disease type 1E.
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