Living with Spinocerebellar ataxia type 12
A very rare inherited condition with tremor and mild balance and coordination problems.
Understanding Spinocerebellar ataxia type 12
It is marked by action tremor (shaking when moving) and relatively mild poor coordination. Stiffness or movement signs similar to parkinsonism and dementia have also been reported. It can begin at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Action tremor
- Poor coordination (ataxia)
- Shrinking of the cerebellum
- Brain shrinkage
- Parkinsonism
- Strong reflexes
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 PPP2R2B 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
GARD lists changes in the PPP2R2B gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sca12
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 Spinocerebellar ataxia type 12.
Explore research for Spinocerebellar ataxia type 12
Explore actively recruiting Spinocerebellar ataxia type 12 studies with HealthSpark.
Find actively recruiting studies for Spinocerebellar ataxia type 12 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 Spinocerebellar ataxia type 12 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 Spinocerebellar ataxia type 12
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 Spinocerebellar ataxia type 12 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.