Living with Autosomal dominant Charcot-Marie-Tooth disease type 2W
A rare inherited nerve condition that causes slowly worsening weakness and walking difficulty in the legs, starting from childhood to late adulthood.
Understanding Autosomal dominant Charcot-Marie-Tooth disease type 2W
Most people have walking difficulties and reduced feeling at the ends of the limbs, but some have no sensory symptoms. High-arched feet are common. The age it starts varies widely, from childhood to late adulthood. Symptoms progress slowly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Walking difficulty
- Weakness in the lower legs and feet
- High-stepping walk
- High-arched feet (pes cavus)
- Reduced vibration sense in the legs
- Weakness in the hands
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 HARS1 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
GARD says changes in the HARS1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant axonal charcot-marie-tooth disease type 2w; autosomal dominant charcot-marie-tooth disease type 2 due to hars (histidyl-trna synthetase 1) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to hars mutation; charcot-marie-tooth disease type 2 caused by mutation in hars; charcot-marie-tooth disease, axonal, autosomal dominant, type 2w; charcot-marie-tooth disease, axonal, type 2w
Patient organizations
- CMT Research FoundationAutosomal dominant Charcot-Marie-Tooth disease type 2W · 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 Autosomal dominant Charcot-Marie-Tooth disease type 2W.
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