Limited structured data is available for this condition. Information continues to be gathered as research progresses.(5 data sources · Data coverage: Limited)

Overview

autosomal recessive congenital cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

Currently, there are no known synonyms or associated genes documented for this condition. There is also regarding inheritance patterns, prevalence, or specific symptoms. Additionally, there are no orphan drugs under investigation for this disease.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand potential hereditary implications. Connecting with rare disease registries, such as NORD or Orphanet, may provide additional resources and support. Engaging with online patient communities can also help in finding others with similar experiences.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

3 genes

ATCAY CWF19L1 PMPCA

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:98095

GARD

Genetic and Rare Diseases Info Center

GARD:19412

Know a Patient Advocacy Group for this condition?

Help patients and families find support by registering your organization or suggesting a group that serves this community.

Was this helpful?

AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

autosomal recessive congenital cerebellar ataxia

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?