Living with Autosomal recessive spinocerebellar ataxia 2
An inherited condition with uncoordinated movement and delayed development that starts in infancy to adolescence.
Understanding Autosomal recessive spinocerebellar ataxia 2
Symptoms begin in infancy, childhood, or adolescence. People have uncoordinated, inaccurate movements and unsteady walking. Intellectual disability and delays in speech and walking are common. Eyes may move involuntarily.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble coordinating walking (gait ataxia)
- Shrinking of the cerebellum
- Delayed speech and delayed walking
- Intellectual disability
- Unclear speech (dysarthria)
- Low muscle tone and muscle weakness
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PMPCA 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); Eye disease specialists (ophthalmologists); 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 PMPCA gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive cerebelloparenchymal disorder type 3; autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca; autosomal recessive spinocerebellar ataxia type 2; cerebellar hypoplasia, nonprogressive norman type; cerebelloparenchymal disorder iii; cpd iii
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 2.
Explore research for Autosomal recessive spinocerebellar ataxia 2
Explore actively recruiting Autosomal recessive spinocerebellar ataxia 2 studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive spinocerebellar ataxia 2 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 Autosomal recessive spinocerebellar ataxia 2 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 Autosomal recessive spinocerebellar ataxia 2
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 Autosomal recessive spinocerebellar ataxia 2 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.