Living with Charcot-Marie-Tooth disease type 2I
An inherited nerve condition starting in adulthood with severe loss of feeling and weakness mostly in the legs.
Understanding Charcot-Marie-Tooth disease type 2I
It starts later in life, in adulthood. People have severe loss of feeling, including tingling and numbness, along with weakness mainly in the legs and absent or reduced reflexes.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Severe loss of feeling
- Tingling (paresthesia)
- Numbness
- Weakness mainly in the legs
- Absent or reduced reflexes
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 MPZ 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 MPZ 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 2i; charcot-marie-tooth disease, axonal, type 2i; charcot-marie-tooth disease, type 2i; charcot-marie-tooth neuropathy type 2i; cmt2i
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 2I · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 2I · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 2I · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 2I · 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 2I.
Explore research for Charcot-Marie-Tooth disease type 2I
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