Living with Charcot-Marie-Tooth disease axonal type 2Z
A rare inherited nerve condition that can start with low muscle tone in infancy or later with leg weakness.
Understanding Charcot-Marie-Tooth disease axonal type 2Z
It can begin early with low muscle tone and weakness, or later with weakness and wasting in the lower legs, cramps, and loss of feeling. Weakness may spread, unevenly, to the upper arms and legs. Some people have muscle stiffness and learning difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Wasting of lower leg muscles
- Weakness in the arms
- Trouble walking and running
- Babinski sign (a nerve reflex finding)
- Nerve myelin changes
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 MORC2 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 MORC2 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 2z; autosomal dominant charcot-marie-tooth disease type 2 due to morc2 (morc family cw-type zinc finger 2) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation; autosomal dominant charcot-marie-tooth disease type 2z; charcot-marie-tooth disease caused by mutation in morc2; charcot-marie-tooth disease, axonal, autosomal dominant, type 2z
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2Z · 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 2Z.
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