Living with Charcot-Marie-Tooth disease type 2Y
A rare inherited nerve condition with slowly worsening weakness in the hands and feet, balance trouble, and loss of feeling.
Understanding Charcot-Marie-Tooth disease type 2Y
It causes slowly worsening weakness and wasting in the muscles farthest from the center of the body. Onset and severity vary. People may have balance problems, walking and running trouble, foot differences, and hand clumsiness. Some also have speech and swallowing trouble or mild changes in thinking and behavior. It starts in childhood or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking and running
- Poor balance
- Foot drop
- Wasting of muscles in the hands and feet
- Loss of feeling in the hands and feet
- Absent ankle reflexes
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 VCP 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 VCP 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 axonal charcot-marie-tooth type 2y; autosomal dominant charcot-marie-tooth disease type 2 due to vcp (valosin containing protein) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation; autosomal dominant charcot-marie-tooth disease type 2y; charcot-marie-tooth disease type 2 caused by mutation in vcp; charcot-marie-tooth disease, axonal, autosomal dominant, type 2y
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease type 2Y · 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 2Y.
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