Living with Charcot-Marie-Tooth disease type 2B
An inherited nerve condition that causes severe loss of feeling in the hands and feet, along with sores and weakness.
Understanding Charcot-Marie-Tooth disease type 2B
People have severe loss of feeling in the feet, lower legs, hands, and forearms, weaker ankle reflexes, weakness in the lower legs, and muscle wasting. It is also linked with sores (ulcers) on the hands and feet. Onset is in the second or third decade of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe loss of feeling in the hands and feet
- Absent ankle reflexes
- Weakness and wasting in the lower legs
- Foot infections of the bone (osteomyelitis)
- High-stepping walk (steppage gait)
- High-arched feet (pes cavus)
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 RAB7A 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 RAB7A 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 2b; charcot-marie-tooth disease type 2 caused by mutation in rab7a; charcot-marie-tooth disease, autosomal dominant, type 2b; charcot-marie-tooth disease, axonal, type 2b; charcot-marie-tooth disease, type 2b; charcot-marie-tooth neuropathy type 2b
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 2B · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 2B · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 2B · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 2B · 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 2B.
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