Living with Charcot-Marie-Tooth disease type 4B3
An inherited nerve condition starting in childhood with slowly worsening weakness and loss of feeling.
Understanding Charcot-Marie-Tooth disease type 4B3
It causes nerve damage affecting movement and feeling, with weakness and wasting in the muscles farthest from the center of the body, and loss of feeling. Nerve signals are slowed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Weakness in the arms
- Absent tendon reflexes
- Loss of feeling in the hands and feet
- Flat feet
- Muscle wasting
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 SBF1 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 CMT4B3 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 SBF1 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: charcot-marie-tooth disease type 4 caused by mutation in sbf1; charcot-marie-tooth disease with focally folded myelin; charcot-marie-tooth disease, demyelinating, type 4b3; charcot-marie-tooth neuropathy type 4b3; charcot-marie-tooth neuropathy type 4b3 (cmt4b3); cmt4b3
Patient organizations
- CMT4B3 Research FoundationCharcot-Marie-Tooth disease type 4B3 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4B3 · 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 4B3.
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