Living with Charcot-Marie-Tooth disease type 4B1
An inherited nerve condition starting in early childhood with severe nerve damage and weakness in the hands and feet.
Understanding Charcot-Marie-Tooth disease type 4B1
The typical features are weakness and wasting in the muscles farthest from the center of the body, loss of feeling, and high foot arches. Nerve signals are very slow. Other features can include facial weakness, vocal cord weakness, breathing difficulty, and skeletal differences. It begins in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wasting of muscles in the hands and feet
- Loss of feeling in the hands and feet
- Clubfeet
- Facial weakness (facial palsy)
- Irregular nerve coating (myelin) on nerve tests
- Changes in hearing tests
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 MTMR2 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 MTMR2 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: autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1; charcot-marie-tooth disease type 4 caused by mutation in mtmr2; charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1; charcot-marie-tooth disease, demyelinating, type 4b1; charcot-marie-tooth disease, type 4b; charcot-marie-tooth neuropathy type 4b1
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 4B1 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4B1 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 4B1 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4B1 · 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 4B1.
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