Living with Autosomal recessive spinocerebellar ataxia 16
A rare inherited condition with slowly worsening balance problems that can start from childhood to adulthood.
Understanding Autosomal recessive spinocerebellar ataxia 16
The coordination problems lead to unsteady walking. People can also have unclear speech, trouble swallowing, shaky eye movements, leg stiffness, mild nerve damage affecting feeling, thinking changes, and an older-looking appearance. Onset ranges from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady walk and balance problems
- Poor limb and trunk coordination
- Shrinking of the cerebellum
- Unclear speech (dysarthria)
- Overactive reflexes
- Older-looking facial appearance (progeroid)
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 STUB1 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 STUB1 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 caused by mutation in stub1; autosomal recessive cerebellar ataxia due to stip1 homology and u-box containing protein 1 deficiency; autosomal recessive cerebellar ataxia due to stub1 (stip1 homology and u-box containing protein 1) deficiency; autosomal recessive cerebellar ataxia due to stub1 deficiency; autosomal recessive spinocerebellar ataxia type 16; scar16
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 spinocerebellar ataxia 16.
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