Living with Azorean disease
An inherited condition with slowly worsening balance, coordination, and speech problems, usually starting in mid-adulthood.
Understanding Azorean disease
People first have trouble with coordination and balance (ataxia), plus speech problems, muscle tightness, stiffness, tremor, bulging eyes, and double vision. Sleep disorders such as restless legs and acting out dreams can cause daytime tiredness. Over time, nerve damage in the limbs, cramps, swallowing trouble, and memory and planning problems can occur. Signs usually begin in mid-adulthood but can appear from childhood to late adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with balance and coordination (ataxia)
- Unclear speech (dysarthria)
- Double vision
- Muscle contractions that twist the body (dystonia)
- Shaky eye movements (nystagmus)
- Bulging eyes (proptosis)
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 ATXN3 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
National Ataxia Foundation 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: National Ataxia Foundation
- 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 National Ataxia Foundation
- 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
It is caused by changes in the ATXN3 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: autosomal dominant striatonigral degeneration; azorean disease of the nervous system; azorean neurologic disease; machado disease; machado joseph disease; machado-joseph disease
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- 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 Azorean disease.
Explore research for Azorean disease
Explore actively recruiting Azorean disease studies with HealthSpark.
Find actively recruiting studies for Azorean disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Azorean disease studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Azorean disease
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Azorean disease experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.