Living with Spinocerebellar ataxia type 41
A rare inherited condition starting in adulthood with worsening balance and coordination problems.
Understanding Spinocerebellar ataxia type 41
It causes slowly worsening imbalance and poor coordination, with an unsteady walk, starting in adulthood. Brain MRI has shown mild shrinking of the cerebellar vermis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance
- Poor coordination when walking
- Shrinking of the cerebellar vermis
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 TRPC3 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
GARD lists changes in the TRPC3 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sca41
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 type 41.
Explore research for Spinocerebellar ataxia type 41
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- Recruiting studies from ClinicalTrials.gov
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