Living with Giant axonal neuropathy
An inherited condition of the nerves that begins in early childhood with walking problems and slowly gets worse.
Understanding Giant axonal neuropathy
Symptoms start in the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells, and the central nervous system is affected too. Signs usually begin in early childhood and get worse over time. Most people first have trouble walking. Some people have a milder form that begins later in life.
Signs & symptoms
Symptoms vary from person to person. GARD describes these:
- Trouble walking
- Loss of feeling, strength, and reflexes in the limbs
- Poor coordination (ataxia)
- Curved spine (scoliosis)
- Very kinky hair
- Constipation, heat intolerance, and reduced sweating
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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's summary doesn't describe the cause or inheritance of this condition.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Giant axonal neuropathy.
Explore research for Giant axonal neuropathy
Explore actively recruiting Giant axonal neuropathy studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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