This article provides a concise overview of the causes, symptoms, diagnosis, treatment, and prevention of Tay-Sachs disease in the brain and spinal cord.
It is caused by mutations in the HEXA gene, which produces the enzyme hexosaminidase A. In nerve cells that do not have sufficient levels of Hex-A, a fatty substance called GM2 ganglioside accumulates abnormally, leading to their degeneration and eventual death. In order to develop Tay-Sachs disease, an individual must inherit two mutated copies of the HEXA gene, one from each parent.
Tay-Sachs disease usually manifests in early childhood and progresses rapidly. Common symptoms include:
Infants with Tay-Sachs disease may have developmental delays, such as not being able to sit, crawl, or walk.
As the disease progresses, affected individuals may experience muscle weakness, loss of motor skills, and seizures.
Individuals with Tay-Sachs disease may develop vision and hearing impairments.
At the center of the retina, there may be a characteristic cherry-red spot.
Exaggerated startle response: Infants may exhibit exaggerated reactions to sudden movements or noises.
As the disease progresses, affected individuals may experience difficulty swallowing and may require tube feeding.
Tay-Sachs disease is typically diagnosed through a combination of clinical evaluation, genetic testing, and specialized laboratory tests. Diagnostic procedures may include:
In addition to performing a thorough physical examination to assess for Tay-Sachs disease symptoms and signs, a healthcare provider will inquire about family history of genetic disorders.
Tay-Sachs disease can be diagnosed through genetic testing of blood or saliva samples.
An enzyme assay can be used to confirm the diagnosis of Tay-Sachs disease by determining the activity levels of Hex-A enzyme in blood or other tissues.
There is no cure for Tay-Sachs disease, and treatment focuses on managing symptoms and providing supportive care. Treatment options include:
Management of symptoms: Medications may be prescribed to treat symptoms such as seizures, muscle stiffness, or respiratory problems.
In order to ensure adequate nutrition and hydration, nutritional supplements and feeding tubes may be necessary.
Individuals with Tay-Sachs disease can benefit from physical and occupational therapy programs that improve mobility, muscle strength, and quality of life.
People with advanced Tay-Sachs disease and their families may benefit from hospice and palliative care services.
As Tay-Sachs disease is an inherited genetic disorder, prevention strategies focus on genetic counseling and testing for at-risk individuals. Genetic counseling may be helpful to couples who have a family history of Tay-Sachs disease or other genetic conditions. In order to make informed family planning decisions, Tay-Sachs disease carriers can be identified through prenatal testing and carrier screening.
