Living with Charlevoix-Saguenay spastic ataxia
An inherited condition that affects muscle movement, causing stiffness, poor balance, and nerve damage in the arms and legs.
Understanding Charlevoix-Saguenay spastic ataxia
People typically have tense, stiff muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced feeling and weakness in the arms and legs (peripheral neuropathy). Other muscle problems can include muscle wasting, eye shaking (nystagmus), and trouble swallowing and speaking. It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Trouble walking
- Muscle stiffness (spasticity)
- Babinski sign (a nerve reflex finding)
- Cerebellum differences on brain scans
- Differences in the pons (part of the brainstem)
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 SACS 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
Changes in the SACS gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: arsacs; arsacs - autosomal recessive spastic ataxia of charlevoix-saguenay; autosomal recessive spastic ataxia of charlevoix-saguenay; autosomal recessive spastic ataxia type 6; sacs; spastic ataxia 6, autosomal recessive
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 Charlevoix-Saguenay spastic ataxia.
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