Neurological
Autosomal Recessive
Tay-Sachs Disease
A fatal genetic disorder causing progressive destruction of nerve cells. Classic infantile form causes death by age 4-5.
Genetic Information
Associated Gene
HEXA
Inheritance Pattern
Autosomal Recessive
Carrier Frequency
1 in 30 (Ashkenazi Jewish ancestry)
Signs and Symptoms
- Developmental regression
- Cherry-red spot in eye
- Startle response to sounds
- Seizures
- Progressive paralysis
Treatment and Management
Currently, only supportive care is available for this condition.
No treatment available; supportive care only
How Is It Inherited?
This condition follows an autosomal recessive inheritance pattern. This means:
- Carriers (1 copy) are typically healthy with no symptoms
- Affected individuals (2 copies) have the condition
- If both parents are carriers: 25% chance with each pregnancy that the child will be affected
Carrier testing is recommended for individuals with a family history
or from populations with higher carrier rates.
Medical Reference
For detailed clinical information, visit the GeneReviews article:
GeneReviews: Tay-Sachs DiseaseQuick Facts
Category
Neurological
Inheritance
Autosomal Recessive
Gene(s)
HEXA
Treatable
No
Have Questions?
Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.
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Disclaimer: This information is for educational purposes only
and should not replace professional genetic counseling. If you have questions
about genetic test results, please consult with a certified genetic counselor.