Living with Charcot-Marie-tooth disease, axonal, type 2DD
A rare inherited nerve condition that causes weakness and muscle wasting, mostly in the hands and feet.
Understanding Charcot-Marie-tooth disease, axonal, type 2DD
It mainly causes weakness and wasting in the muscles farthest from the center of the body, weak or absent reflexes, and less sense of vibration in the arms and legs. Many people develop high foot arches. People usually keep walking, even late in the disease. It starts anywhere from childhood to adulthood, and earlier onset tends to mean more severe disease.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Weakness and wasting in the hands and feet
- Weak or absent tendon reflexes
- Less sense of vibration
- High foot arches (pes cavus)
- Poor balance (ataxia) or tremor in some people
- Trouble swallowing in some people
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 ATP1A1 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 ATP1A1 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: atp1a1 (atpase na+/k+ transporting subunit alpha 1) related autosomal dominant charcot-marie-tooth disease type 2; atp1a1-related autosomal dominant charcot-marie-tooth disease type 2; atp1a1-related cmt2; autosomal dominant charcot-marie-tooth disease type 2dd; charcot-marie-tooth neuropathy, type 2dd; cmt2dd
Patient organizations
- CMT Research FoundationCharcot-Marie-tooth disease, axonal, type 2DD · 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 2DD.
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