Living with Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
An inherited condition with balance problems and jerky eye movements that worsen over time.
Understanding Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
People have slowly worsening unsteadiness in walking, the trunk, and the limbs. Eyes overshoot when they jump from one point to another, which disrupts steady gaze. Other features include unclear speech, muscle twitches, nerve damage affecting feeling and movement, and high-arched feet. Onset can happen at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening balance problems (ataxia)
- Unsteady walk
- Overshooting eye movements (saccades)
- Unclear speech (dysarthria)
- Nerve damage affecting feeling and movement
- High-arched feet (pes cavus)
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 VPS13D 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
It is caused by changes in the VPS13D gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive cerebellar ataxia-movement disorder syndrome; scar4; scasi; spinocerebellar ataxia 24; spinocerebellar ataxia with saccadic intrusions
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 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome.
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