Living with Charcot-Marie-Tooth disease type 4B2
An inherited nerve condition that affects nerves in the feet, legs, and hands and can also cause glaucoma.
Understanding Charcot-Marie-Tooth disease type 4B2
Nerve damage can cause loss of feeling and wasting of muscles in the feet, legs, and hands. It can also cause glaucoma (damage to the eye's optic nerve). It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the legs and arms
- Loss of feeling in the hands and feet
- Absent reflexes in the arms and legs
- Walking trouble
- Foot differences
- Glaucoma
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 SBF2 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 SBF2 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 4b2; charcot-marie-tooth disease type 4 caused by mutation in sbf2; charcot-marie-tooth disease, demyelinating, type 4b2; charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2; charcot-marie-tooth neuropathy type 4b2; charcot-marie-tooth neuropathy type 4b2 (cmt4b2)
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 4B2 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4B2 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 4B2 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4B2 · 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 4B2.
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