Living with Spastic ataxia 3
A rare inherited nervous system condition with poor coordination, stiff muscles and brain changes.
Understanding Spastic ataxia 3
It also involves shrinking of the cerebellum (and sometimes the cerebrum), involuntary muscle movements (dystonia) and changes in the brain's white matter. Symptoms can start anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination when walking
- Stiff muscles (spasticity)
- Slurred speech
- Involuntary eye movements (nystagmus)
- Dystonia
- Mild intellectual disability
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 MARS2 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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 lists changes in the MARS2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: arsal; arsal - autosomal recessive spastic ataxia with leukoencephalopathy; ataxia, spastic, 3, autosomal recessive; autosomal recessive spastic ataxia caused by mutation in mars2; autosomal recessive spastic ataxia type 3; autosomal recessive spastic ataxia with leukoencephalopathy
Patient organizations
- National Ataxia FoundationSpastic ataxia 3 · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic ataxia 3.
Explore research for Spastic ataxia 3
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