Living with X-linked progressive cerebellar ataxia
A rare, slowly worsening X-linked condition with poor coordination and balance, starting in childhood, with normal intelligence.
Understanding X-linked progressive cerebellar ataxia
It begins in the first or second decade of life. Features include unsteady walking, shaky and uncoordinated limb movements, slurred speech, and quick eye movements. High-arched feet, scoliosis, muscle wasting, and nerve problems in the limbs have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Unsteady walking and frequent falls
- Tremor when reaching (intention tremor)
- Quick, jerky eye movements (nystagmus)
- High-arched feet
- Nerve damage with weakness and numbness
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 ATP2B3 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
X-linked progressive cerebellar ataxia is caused by changes in the ATP2B3 gene and follows X-linked inheritance.
Also known as: olivopontocerebellar atrophy, x-linked; opca, x-linked; spinocerebellar ataxia, x-linked 1; spinocerebellar ataxia, x-linked 1, x-linked recessive; spinocerebellar ataxia, x-linked type 1
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 X-linked progressive cerebellar ataxia.
Explore research for X-linked progressive cerebellar ataxia
Explore actively recruiting X-linked progressive cerebellar ataxia studies with HealthSpark.
Find actively recruiting studies for X-linked progressive cerebellar ataxia 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 X-linked progressive cerebellar ataxia 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 X-linked progressive cerebellar ataxia
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 X-linked progressive cerebellar ataxia 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.