Deficiency Disease Hexosaminidase A, also known as Hexosaminidase A deficiency or Tay-Sachs disease, is a rare genetic disorder characterized by the insufficient production or absence of the enzyme hexosaminidase A (Hex A).
Hex A is responsible for breaking down a fatty substance called GM2 ganglioside, which accumulates in the nerve cells of the brain and spinal cord in individuals with this condition. This accumulation leads to progressive damage and destruction of nerve cells, resulting in a wide range of neurological symptoms.
The disease is typically inherited in an autosomal recessive pattern, meaning that both parents must pass on a mutated or nonfunctional gene for Hex A. Individuals carrying only one copy of the mutated gene are considered carriers, usually showing no symptoms.
Symptoms of Hexosaminidase A deficiency typically appear in infancy or early childhood and vary depending on the age of onset and the progression of the disease. They can include motor difficulties, muscle weakness, loss of muscle tone, developmental delays, intellectual disability, seizures, vision and hearing impairments, and eventually paralysis and dementia.
Although there is currently no cure for Hexosaminidase A deficiency, management focuses on alleviating symptoms and providing supportive care. Multi-disciplinary treatments may include physical and occupational therapy, speech therapy, and special education to address developmental delays and aid in maintaining functional abilities. Additionally, medications and interventions can be used to manage specific symptoms, such as seizure control medication or respiratory support for breathing difficulties.
Early detection through genetic testing and counseling is crucial, as it allows for informed family planning decisions and helps individuals and their families prepare for managing the effects of the disease.
