Tay-Sachs Disease

Diagnosis

Diagnosing Tay-Sachs disease typically involves reviewing symptoms, discussing any family history of hereditary disorders and doing a physical examination. Your child may also be referred to specialists such as a neurologist for a detailed nervous system evaluation and an ophthalmologist for an eye exam. Several tests help confirm the diagnosis and identify the genetic cause of the condition.

A diagnostic blood test measures the level of the hexosaminidase A enzyme, which is low or absent in Tay-Sachs disease. Genetic testing can look for specific changes in the HEXA gene that confirm the condition. During an eye exam, a health care provider may find a cherry-red spot at the back of the eyes, which is a characteristic sign of the disease. Prenatal testing can also be done during pregnancy. This may involve chorionic villi sampling, which examines a small piece of the placenta, or amniocentesis, which analyzes a sample of amniotic fluid around the baby.

Treatment

There is currently no cure for Tay-Sachs disease, and no treatment has been proved to slow its progression. Care focuses on managing symptoms, improving comfort and preventing complications. Treatment plans are supportive and tailored to the specific needs of the child.

Supportive therapies may include medications to ease symptoms and lower the risk of complications. These may involve anti-seizure medicines or antibiotics to treat infections. Respiratory care is often necessary because mucus can build up in the lungs, increasing the risk of breathing problems and infections. Chest physiotherapy, exercise and techniques to clear mucus can be helpful, and medications that reduce saliva may lower the chance of aspiration.

Nutrition and hydration support are important, especially if swallowing becomes difficult. To prevent choking or inhaling food into the lungs, a feeding tube may be recommended. This can be placed through the nose into the stomach or inserted surgically into the abdomen. Physical therapy may help maintain flexibility, movement and comfort as the disease progresses. Occupational therapy and speech and language therapy can assist with daily activities, swallowing challenges and overall functional support.

Research continues into potential future treatments, including gene therapy, stem cell transplantation and enzyme replacement therapy. These approaches may eventually provide ways to slow disease progression or offer curative options. Families are encouraged to seek support resources and connect with groups that understand the challenges of caring for a child with Tay-Sachs disease.