Living with Charcot-Marie-Tooth disease axonal type 2S
A rare inherited nerve condition causing slowly worsening weakness in the arms and legs, with a range of onset ages.
Understanding Charcot-Marie-Tooth disease axonal type 2S
It causes slowly worsening weakness and wasting in the arms and legs, absent or reduced reflexes, mild loss of feeling, foot drop, and high foot arches. Some babies have low muscle tone and delayed motor skills. Scoliosis and autonomic problems may occur. It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the legs
- Weakness in the arms
- Absent reflexes in the arms and legs
- Loss of feeling in the hands and feet
- Foot drop
- 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 IGHMBP2 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 CMT 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 IGHMBP2 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 axonal charcot-marie-tooth type 2s; charcot-marie-tooth disease caused by mutation in ighmbp2; charcot-marie-tooth disease type 2s; charcot-marie-tooth disease, axonal, autosomal recessive, type 2s; charcot-marie-tooth neuropathy type 2s; charcot-marie-tooth neuropathy, type 2s
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2S · United States
- SmashSMARDCharcot-Marie-Tooth disease axonal type 2S · 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 axonal type 2S.
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