Living with Spinocerebellar ataxia type 20
An inherited condition with slowly worsening coordination and speech problems and a tremor of the soft palate.
Understanding Spinocerebellar ataxia type 20
About two-thirds of people have palatal tremor and/or a voice problem that resembles spasmodic dysphonia. Speech trouble often comes first, sometimes years before the ataxia. Thinking is normal. GARD says this information comes from 16 people in a single Australian family. It starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slurred speech (dysarthria)
- Poor coordination
- Voice problems (dysphonia)
- Tremor
- Slow movements
- Shrinking of the cerebellum
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.
- 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
- 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 doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: chromosome 11q12 duplication syndrome, 260-kb; sca20; spinocerebellar ataxia type20; spinocerebellar ataxia with dysphonia; spinocerebellar ataxia with spasmodic cough
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 20.
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