Tay-Sachs Disease – Symptoms and Causes

ByJanis Updated

Overview

Tay-Sachs disease is a rare genetic disorder caused by a gene mutation that affects the nervous system. This mutation leads to the accumulation of a fatty substance called GM2 ganglioside in the brain, which progressively damages nerve cells.

Tay-Sachs disease is most common among people of Ashkenazi Jewish descent, but it can also occur in individuals of French-Canadian, Irish, or Cajun descent.

Symptoms of Tay-Sachs disease usually appear during infancy and may include:

  • Muscle weakness
  • Loss of motor skills such as crawling or sitting
  • Exaggerated startle reaction to sudden noises

As the disease progresses, affected children may experience:

  • Loss of vision and hearing
  • Seizures
  • Intellectual disabilities
  • Paralysis in advanced stages

Unfortunately, Tay-Sachs disease is fatal, with most affected children not surviving beyond early childhood. There is currently no cure, and treatment focuses on managing symptoms and providing supportive care.

However, genetic testing can help identify carriers of the mutated gene. This preventive measure is essential for those at risk, allowing individuals to make informed reproductive choices and reduce the likelihood of passing the disease to future generations.

Health Writer

Janis's areas of expertise include nutrition, exercise, stress management, and mental health. She is passionate about educating and empowering people to take control of their health and make positive changes that can last a lifetime. Janis believes that small, sustainable changes are the key to long-term success, and she works with her clients to develop personalized plans that fit their individual needs and lifestyles.