Living with Spinocerebellar ataxia 27A
A rare inherited brain condition that affects balance and coordination, with unsteady walking, tremor and slurred speech.
Understanding Spinocerebellar ataxia 27A
People may have unsteady walking, balance problems, tremor, slow or slurred speech and jerky eye movements. Symptoms start at widely varying ages, from infancy to adulthood. It usually worsens slowly, and in some people balance problems are mild. Many have mild developmental delay or learning difficulties. Symptoms can flare with fever, stress or exercise, and may link with mood changes.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, symptoms include:
- Unsteady walk and balance problems
- Tremor
- Slurred or slow speech
- Jerky eye movements (nystagmus)
- Mild developmental delay
- Mood or behavior changes
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 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 doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning a person can be affected if they inherit the changed gene from one parent.
Also known as: nys4; nystagmus 4, congenital, autosomal dominant; vestibulocerebellar disorder with predominant ocular signs
Patient organizations
- National Ataxia FoundationSpinocerebellar ataxia 27A · United States
- American Nystagmus NetworkSpinocerebellar ataxia 27A · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinocerebellar ataxia 27A.
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