Tay-Sachs disease
Tay-Sachs Disease in India: A Comprehensive Guide
Tay-Sachs disease is a devastating genetic disorder that primarily affects infants. Though rare globally, it has been observed in certain populations in India. This comprehensive guide aims to shed light on the disease in the Indian context.
What are the Symptoms of Tay-Sachs Disease?
In infants, the symptoms of Tay-Sachs typically appear between 3 and 6 months of age. These can include:
- Loss of motor skills (crawling, rolling over)
- Exaggerated startle response to loud noises
- Muscle weakness and floppiness
- Seizures
- Vision and hearing loss
- Cherry-red spot in the eye (a key diagnostic sign)
- Developmental delays
Causes and Genetic Inheritance
Tay-Sachs disease is an autosomal recessive disorder. This means both parents must carry a mutated copy of the HEXA gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have Tay-Sachs.
Diagnosis and Genetic Testing in India
Early diagnosis of Tay-Sachs disease is crucial, and genetic testing plays a vital role. Several genetic testing centers across India offer carrier screening and diagnostic tests for Tay-Sachs disease, including:
- Mapmygenome: Offers a range of genetic tests, including carrier screening for Tay-Sachs disease, providing comprehensive reports and genetic counseling services.
- Centre for Cellular and Molecular Biology (CCMB): A renowned research institution that also offers genetic testing services, including those for rare diseases.
- Centre for DNA Fingerprinting and Diagnostics (CDFD): A government-run institution that offers genetic testing and counseling services.
Treatment and Management Options in India
While there is no cure for Tay-Sachs, management focuses on improving the child‘s quality of life. This may include medications to control seizures, physical and occupational therapy, nutritional support, and respiratory care. Some hospitals in India with specialized pediatric neurology departments that can offer comprehensive care for children with Tay-Sachs disease include:
- All India Institute of Medical Sciences (AIIMS), New Delhi
Support and Resources for Families in India
Coping with Tay-Sachs disease is challenging. Here are some resources available in India:
- Lysosomal Storage Disorders Support Society (LSDSS), India: Provides information and support to families affected by lysosomal storage disorders, including Tay-Sachs.
- Organization for Rare Diseases India (ORDI): Offers advocacy and support for individuals and families affected by rare diseases.
The Importance of Genetic Counseling in India
If you have a family history of Tay-Sachs or are part of a high-risk group, genetic counseling is crucial. Genetic counselors can help you understand your risk, discuss available testing options, and provide emotional support. Many hospitals and genetic testing centers in India like Mapmygenome, offer genetic counseling services.
