Living with Spinocerebellar ataxia type 13
A rare inherited condition with poor coordination, abnormal eye movements and learning challenges, with childhood and adult forms.
Understanding Spinocerebellar ataxia type 13
When symptoms start and how severe they are can differ, even in the same family. The childhood form is often the least progressive and may include mild to moderate learning problems, delayed motor skills and seizures. Main symptoms include poor coordination, abnormal eye movements, mild to moderate intellectual disability and muscle jerks. Other symptoms may include speech and swallowing trouble, slow movement and mild bladder problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination and walking trouble
- Jerky eye movements (nystagmus)
- Mild intellectual disability
- Delayed development of motor skills
- Slurred speech (dysarthria)
- 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 KCNC3 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 says it is caused by changes in the KCNC3 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sca13; spinocerebellar ataxia type13
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 13.
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