DISEASE SCANNER
Global Incurable Diseases Tracker
Tay-Sachs Disease
A fatal autosomal recessive lysosomal storage disorder caused by HEXA gene mutation, resulting in deficiency of beta-hexosaminidase A. GM2 ganglioside accumulates in neurons. Most common in Ashkenazi Jewish, French Canadian, and Cajun populations. Infantile form most severe.
5.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Specialized biochemical tests
- 3Imaging
- 4Biopsy
- 5Clinical evaluation
- 6Specialist consultation
Prognosis
Variable; many rare diseases have limited treatment options but research is advancing rapidly. Early diagnosis crucial for optimal management.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Newborn screening
- Family planning
Research Status
No cure. Supportive care only. Enzyme replacement cannot cross blood-brain barrier. Substrate reduction therapy (miglustat) for later-onset forms. Gene therapy trials ongoing. Prenatal and carrier screening effective.
Affected Countries
Sources
- https://rarediseases.org
- https://www.ncbi.nlm.nih.gov/books/NBK1262
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.