Living with Charcot-Marie-Tooth disease axonal type 2V
A rare inherited nerve condition that starts in adulthood with leg pain, tingling, and loss of reflexes.
Understanding Charcot-Marie-Tooth disease axonal type 2V
Adults have repeated pain in the legs, with or without cramps, slow loss of reflexes and sense of vibration, and tingling in the feet and later the hands. People often have trouble sleeping and mild balance trouble from loss of sensation (sensory ataxia). It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg pain
- Reduced reflexes
- Less sense of vibration
- Loss of feeling in the hands and feet
- Mild balance problems (sensory ataxia)
- Trouble sleeping
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 NAGLU 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 NAGLU 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 disease type 2v; autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation; autosomal dominant charcot-marie-tooth disease type 2v; charcot-marie-tooth disease caused by mutation in naglu; charcot-marie-tooth disease, axonal, autosomal dominant, type 2v
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2V · 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 2V.
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