Living with Charcot-Marie-Tooth disease type 2E
An inherited nerve condition with walking trouble and leg weakness that later reaches the arms, starting at a wide range of ages.
Understanding Charcot-Marie-Tooth disease type 2E
It can start between the first and sixth decade of life. It begins with a walking problem and leg weakness that reaches the arms later. Reflexes are reduced or absent, and after some years all people have high foot arches. Some people have hearing loss and tremor when holding a posture.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking
- Weakness in the legs and later the arms
- Reduced or absent reflexes
- Foot differences
- Nerve damage affecting movement
- Nerve damage affecting feeling
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 and genetic specialists.
- 3Consider genetic testing
Changes in NEFL 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); 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 NEFL 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 disease type 2e; charcot-marie-tooth disease type 2 caused by mutation in nefl; charcot-marie-tooth disease, axonal, type 2e; charcot-marie-tooth disease, type 2e; charcot-marie-tooth neuropathy type 2e; charcot-marie-tooth neuropathy, type 2e
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 2E · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 2E · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 2E · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 2E · 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 2E.
Explore research for Charcot-Marie-Tooth disease type 2E
Explore actively recruiting Charcot-Marie-Tooth disease type 2E studies with HealthSpark.
Find actively recruiting studies for Charcot-Marie-Tooth disease type 2E with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Charcot-Marie-Tooth disease type 2E studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Charcot-Marie-Tooth disease type 2E
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Charcot-Marie-Tooth disease type 2E experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.