Living with Spinocerebellar ataxia type 6
An inherited condition with slowly worsening balance, speech and eye problems, usually beginning in a person's forties or fifties.
Understanding Spinocerebellar ataxia type 6
People first have trouble with coordination and balance (ataxia). Other early signs include speech difficulties, involuntary eye movements and double vision. Over time, coordination in the arms may be lost, and tremors and uncontrolled muscle tensing may develop. Symptoms typically begin in the forties or fifties but can appear anytime from childhood to late adulthood. People may need mobility help later in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Jerky eye movements (nystagmus)
- Double vision
- Trouble swallowing
- Tremor when reaching
- Speech difficulty
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 CACNA1A 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
CACNA1A Foundation and 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: CACNA1A Foundation, 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 CACNA1A Foundation and other patient organizations
- 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 CACNA1A gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: autosomal dominant cerebellar ataxia type iii caused by mutation in cacna1a; cacna1a autosomal dominant cerebellar ataxia type iii; sca6
Patient organizations
- CACNA1A FoundationSpinocerebellar ataxia type 6 · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinocerebellar ataxia type 6.
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