Living with Spinocerebellar ataxia type 17
An inherited condition with poor coordination, involuntary movements, memory and thinking changes, and mood or behavior symptoms.
Understanding Spinocerebellar ataxia type 17
Movements can include jerky motions (chorea) and twisting postures (dystonia). Psychiatric symptoms, stiffness and strong reflexes are common. Onset ranges from age 3 to 55. Ataxia and psychiatric changes are often first, followed by involuntary movements, parkinsonism and dementia. Brain MRI shows shrinkage of parts of the brain. Symptoms relate to the length of a repeated stretch of the gene.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Involuntary movements (chorea, dystonia)
- Memory and thinking decline
- Behavior or psychiatric changes
- Stiffness and parkinsonism
- Brain shrinkage on MRI
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 TBP 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 TBP gene, a repeat expansion called a polyglutamine expansion. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: cerebelloparenchymal disorder ii; cpd2; hdl4; huntington disease-like 4; olivopontocerebellar atrophy 5; olivopontocerebellar atrophy type 5
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 17.
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