Living with Charcot-Marie-Tooth disease type 2T
A rare inherited nerve condition starting in adulthood with slowly worsening weakness, mostly in the legs.
Understanding Charcot-Marie-Tooth disease type 2T
It starts in adulthood with slowly worsening weakness and wasting in the muscles farthest from the center of the body, loss of feeling, and reduced or absent reflexes, mostly in the legs. People have trouble walking but keep walking. The arms may be mildly affected.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Slowly worsening leg weakness
- Wasting of muscles in the legs
- Loss of feeling
- Reduced or absent reflexes
- Walking difficulty
- Mild arm involvement in some people
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 MME 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
The Foundation for Peripheral Neuropathy 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: The Foundation for Peripheral Neuropathy
- 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 CMT Research Foundation 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 MME gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: ar-cmt2t; autosomal recessive axonal charcot-marie-tooth disease type 2t; cmt2t
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease type 2T · 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 2T.
Explore research for Charcot-Marie-Tooth disease type 2T
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- Recruiting studies from ClinicalTrials.gov
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