Living with Spinocerebellar ataxia type 42
A rare inherited condition with slowly worsening balance, speech and eye movement problems.
Understanding Spinocerebellar ataxia type 42
It combines an unsteady walk, slurred speech, jerky eye movements and double vision, with mostly cerebellar signs. Less often, people have stiffness, strong reflexes, reduced vibration sense, urinary urgency or incontinence, and tremor. It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady walk
- Slurred speech (dysarthria)
- Jerky eye movements (nystagmus)
- Trouble swallowing
- Urinary urgency
- Depression
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 CACNA1G 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 CACNA1G gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sca42; spinocerebellar ataxia 42
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 42.
Explore research for Spinocerebellar ataxia type 42
Explore actively recruiting Spinocerebellar ataxia type 42 studies with HealthSpark.
Find actively recruiting studies for Spinocerebellar ataxia type 42 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Spinocerebellar ataxia type 42 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Spinocerebellar ataxia type 42
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Spinocerebellar ataxia type 42 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.