Living with Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
A rare inherited nerve condition that starts in childhood with slowly worsening leg weakness, unsteady walking, and falls.
Understanding Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
It starts in childhood with slowly worsening weakness and muscle loss, mostly in the lower legs and feet. People also have reduced feeling and ataxia, with an unsteady, wide-based walk and frequent falls. Reflexes are reduced and the hands may tremble.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Weakness and muscle loss in the lower legs and feet
- Reduced feeling (sensory loss)
- Unsteady, wide-based walk
- Frequent falls
- Reduced reflexes
- Hand tremor
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 DGAT2 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
Charcot-Marie-Tooth Association and 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: Charcot-Marie-Tooth Association, 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 Charcot-Marie-Tooth Association 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 DGAT2 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 charcot-marie-tooth disease type 2 due to diacylglycerol o-acyltransferase 2 mutation; cmt2 due to dgat2 mutation
Patient organizations
- Charcot-Marie-Tooth AssociationAutosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation · 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 2 due to DGAT2 mutation.
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