Living with Giant axonal neuropathy 1
An inherited nerve condition starting in infancy or early childhood with weakness, walking trouble, and loss of feeling in the arms and legs.
Understanding Giant axonal neuropathy 1
It typically begins in infancy or early childhood with severe nerve problems in the arms and legs. Early signs include trouble walking, poor coordination, and loss of strength. Over time, the brain and spinal cord become involved, causing a gradual decline in mental function, loss of control of movements, and seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking
- Loss of feeling in the hands and feet
- Low muscle tone (hypotonia)
- Kinky hair
- Curved spine (scoliosis)
- Intellectual disability
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 GAN 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
Muscular Dystrophy 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: Muscular Dystrophy 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 Muscular Dystrophy 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 GAN gene cause this condition.
Also known as: gan; gan giant axonal neuropathy; gan1; giant axonal neuropathy 1, autosomal recessive; giant axonal neuropathy caused by mutation in gan; giant axonal neuropathy type 1
Patient organizations
- Muscular Dystrophy AssociationGiant axonal neuropathy 1 · United States
- Hannah's Hope FundGiant axonal neuropathy 1 · 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 1.
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