Living with Spinocerebellar ataxia type 11
An inherited condition with slowly worsening balance and coordination problems, abnormal eye movements and nerve damage.
Understanding Spinocerebellar ataxia type 11
People have trouble walking and with balance, and abnormal eye movements. They may have increased muscle tone and reflexes, nerve damage with numbness, weakness or pain in the hands and feet, and twisted muscle postures (dystonia). Diagnosis is based on signs and symptoms and confirmed by genetic testing. Onset happens at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and walking trouble
- Slurred speech (dysarthria)
- Jerky eye movements (nystagmus)
- Trouble swallowing
- Nerve damage (less common)
- Dystonia (less common)
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 TTBK2 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 TTBK2 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sca11; spinocerebellar ataxia type11
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 11.
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