DISEASE SCANNER
Global Incurable Diseases Tracker
Spinocerebellar Ataxia (SCA)
A group of autosomal dominant neurodegenerative disorders characterized by progressive cerebellar ataxia. Multiple subtypes (SCA1, SCA2, SCA3/Machado-Joseph, etc.) caused by CAG repeat expansions or other mutations. Variable features.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Variable depending on specific subtype. SCA1, SCA2, SCA3: wheelchair dependence typically 10-15 years after onset, death 20-30 years after onset. SCA6: slower progression, 20-30 years to wheelchair, normal life span possible. SCA7: vision loss in addition to ataxia, progression over 20-30 years. All types progressive with no cure. Supportive care improves quality of life. Genetic anticipation with earlier onset in subsequent generations. Respiratory complications common cause of death.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
No disease-modifying therapy. Supportive care: physical therapy, assistive devices, speech therapy. Managing complications. Genetic testing for diagnosis and family planning. Research on antisense oligonucleotides for specific types.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.