Today, we focus on Tay-Sachs Disease, a rare and severe genetic disorder that affects the brain and nervous system. It destroys nerve cells, causing loss of movement, seizures, and vision problems.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families diagnose and understand Tay-Sachs Disease. Early testing can help in supportive care and future pregnancy planning.
What is Tay-Sachs Disease?
Tay-Sachs is a genetic disorder where the body lacks an important enzyme (Hex-A). This enzyme removes waste from brain cells. Without it, harmful substances build up, leading to severe nerve damage.
💡 It mainly affects babies, but milder forms can appear later in life.
Types of Tay-Sachs Disease
There are three types, depending on when symptoms start.
✔ Infantile Tay-Sachs (Most Severe) – Starts at 3-6 months. Babies stop developing, lose muscle strength, and develop seizures.
✔ Juvenile Tay-Sachs – Starts between 2 and 10 years old. Children struggle with movement, speech, and walking.
✔ Late-Onset Tay-Sachs (LOTS) – Begins in teenage or adult years. Symptoms include muscle weakness, balance problems, and difficulty speaking.
💡 Infantile Tay-Sachs is fatal, while later forms progress more slowly.
Symptoms of Tay-Sachs Disease
Early Signs in Babies (3-6 months)
✔ Poor eye contact (does not look at parents or follow objects)
✔ Tight muscles (parents notice stiffness while dressing or bathing the baby)
✔ Increased startle reflex (overreacts to sounds or touch)
Later Symptoms (6 months – 2 years)
✔ Stops doing things they used to do (rolling, sitting, grabbing toys)
✔ Severe muscle weakness, leading to paralysis
✔ Blindness and hearing loss
✔ Seizures, which may appear later
Juvenile & Adult Symptoms
✔ Trouble walking and poor coordination
✔ Speech difficulties and memory loss
✔ Depression and mood changes
💡 Symptoms get worse over time. Babies lose skills they once had.
How is Tay-Sachs Inherited?
💡 Tay-Sachs runs in families.
💡 Both parents must carry the faulty gene for their child to inherit the disease.
💡 If both parents are carriers, each child has a 25% chance of being affected.
Dr. Roshan Daniel’s Experience with Tay-Sachs Disease
✅ Some babies are brought in due to poor eye contact and unusual stiffness.
✅ Some parents notice their baby is not learning new skills and is losing old ones.
✅ Some children develop seizures later, even if they didn’t have them before.
✅ Some adults are diagnosed due to muscle weakness and balance problems.
✅ Genetic testing has helped many families confirm the disease and plan for future pregnancies.
💡 Cost of Testing (as of February 2025):
✔ Enzyme Activity Test (Hex-A Deficiency): ₹3,000 – ₹5,000
✔ Genetic Test for HEXA Gene Mutations: ₹20,000 – ₹30,000, results in 14 working days
How is Tay-Sachs Diagnosed?
Doctors use different tests to confirm the disease:
✔ Enzyme Test (Hex-A Activity Test) – Checks for the missing enzyme.
✔ Genetic Testing (HEXA Gene Mutation Analysis) – Confirms Tay-Sachs and detects carriers.
✔ Eye Exam – Some babies have a “cherry-red spot” in the retina, a key sign of Tay-Sachs.
💡 Early diagnosis helps families prepare for care and future pregnancies.
How is Tay-Sachs Treated?
There is no cure, but treatment helps manage symptoms and improve comfort.
🔹 Seizure Medications – Helps control seizures.
🔹 Physical Therapy – Prevents muscle stiffness and improves comfort.
🔹 Nutritional Support – Feeding tubes may be needed as swallowing becomes difficult.
🔹 Breathing Support – Helps children with lung problems.
💡 Supportive care improves quality of life, but infantile Tay-Sachs remains fatal.
FAQs on Tay-Sachs Disease
💡 What causes Tay-Sachs Disease?
It is caused by a faulty HEXA gene, which stops the brain from removing harmful waste.
💡 Can Tay-Sachs run in families?
Yes. Both parents must be carriers of the HEXA gene mutation for a child to inherit the disease.
💡 Can it be diagnosed before birth?
Yes. If both parents are carriers, prenatal genetic testing (amniocentesis or CVS) can check if the baby has Tay-Sachs.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Tay-Sachs live normal lives?
✔ Infantile Tay-Sachs is fatal, with no cure.
✔ Late-onset Tay-Sachs progresses slowly but worsens over time.
✔ Supportive care helps improve comfort and quality of life.
💡 Dr. Roshan Daniel has helped many families manage symptoms and plan future pregnancies.
💡 What happens if Tay-Sachs is not treated?
Without care, Tay-Sachs leads to:
✔ Severe brain damage and loss of motor skills
✔ Seizures, vision loss, and breathing difficulties
✔ Early death in infantile cases
💡 Supportive treatment helps ease symptoms, but the disease remains fatal in young children.
💡 Can Tay-Sachs happen in future pregnancies?
Yes. If both parents are carriers, each pregnancy has a 25% chance of passing on the disease.
✔ Prenatal testing (₹35,000) can check if an unborn baby has it.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for Tay-Sachs Disease
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Enzyme and genetic tests for Tay-Sachs diagnosis
✔ Carrier screening for families planning pregnancy
✔ Supportive care and symptom management
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has a history of Tay-Sachs or unexplained developmental delays, early testing can provide answers and support.
Join Us in Spreading Awareness!
Tay-Sachs is rare and fatal, but early testing can help families prepare and make informed choices. Spreading awareness about symptoms, carrier screening, and available support can help families affected by this disease.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right information and care.
For expert advice on genetic testing, counselling, or Tay-Sachs care, contact Dr. Roshan Daniel at KIMSHealth today! 💙