Living with Giant axonal neuropathy 2
A form of giant axonal neuropathy caused by changes in the DCAF8 gene, starting in infancy or childhood.
Understanding Giant axonal neuropathy 2
GARD lists the onset as infancy and childhood. It is a nervous system condition. GARD has little else about it yet.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 DCAF8 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
Changes in the DCAF8 gene cause this condition. GARD lists autosomal dominant inheritance, which means one changed copy of the gene can be enough.
Also known as: autosomal dominant charcot-marie-tooth disease type 2 with giant axons; autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons; cmt2 with giant axons; dcaf8 giant axonal neuropathy; giant axonal neuropathy 2, autosomal dominant; giant axonal neuropathy caused by mutation in dcaf8
Patient organizations
- Charcot-Marie-Tooth AssociationGiant axonal neuropathy 2 · 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 Giant axonal neuropathy 2.
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