TaySachsbetegség

Tay-Sachs disease is a rare, inherited genetic disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme hexosaminidase A (Hex-A). This deficiency leads to the accumulation of a fatty substance called GM2 ganglioside in the nerve cells. This accumulation is particularly damaging to brain cells.

The disease is most common in people of Ashkenazi Jewish descent, but can occur in other populations as well. It is an autosomal recessive disorder, meaning that a person must inherit two copies of the faulty gene, one from each parent, to develop the disease. Carriers of the gene have one faulty copy and one normal copy, and typically do not show symptoms.

Symptoms usually appear in infancy, between 3 to 6 months of age. Early signs include an exaggerated startle response, lethargy, and weakness. As the disease progresses, infants may lose the ability to see, hear, crawl, and even swallow. Muscle weakness, seizures, and intellectual disability are also common. There is no cure for Tay-Sachs disease, and treatment focuses on managing symptoms and providing supportive care. Most children with Tay-Sachs disease do not live past the age of five. Genetic testing is available to identify carriers and for prenatal diagnosis.