Living with Spinocerebellar ataxia 7
An inherited condition that affects balance, coordination and vision, ranging from teen or adult onset to infant onset.
Understanding Spinocerebellar ataxia 7
Some people start in adolescence or adulthood with progressive ataxia and a retinal disease that affects cones and rods. Others start in infancy or early childhood with problems in many organs and a faster course. It is caused by a repeat expansion that can grow longer from one generation to the next (anticipation), so a child may be affected far earlier than a parent. Teen-onset usually begins with vision problems, then ataxia. Over time, vision, speech, swallowing and movement are affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination that worsens over time
- Slurred speech (dysarthria)
- Optic nerve damage and vision loss
- Involuntary eye movements (nystagmus)
- Tremor
- 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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ATXN7 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); Eye disease specialists (ophthalmologists); 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 ATXN7 gene, a CAG repeat expansion. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: adca, type ii; adca2; adcaii; ataxia with pigmentary retinopathy; atxn7 autosomal dominant cerebellar ataxia type ii; autosomal dominant cerebellar ataxia type 2
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 7.
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