Tay – Sachs


Description:
Tay – Sachs disease is a deadly disease of the nervous system passed down through families. Tay –Sachs occurs when the body lacks hexosaminidase A. Tay - Sachs disease is caused by a defective gene one from each parent on chromosome 15. Anyone can be a carrier of Tay Sachs but the disease is most common among the Ashkenazi Jewish population. About 1 in every 27 members of the Ashkenazi Jewish population carries the Tay Sachs gene.
Inheritance: Tay – Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord. The most common form of Tay – Sachs disease becomes apparent in infancy.
Symptoms:
The most common form appears when the child is 3 to 6 months old, with the disease progressing rapidly to death by age 4 or 5. At birth, the infant appears healthy and develops normally for the first few months of life, but as the buildup of ganglioside GM2 begins to effect nerves, symptoms appear. Increase startle reaction, slow body growth with increasing head size, and delayed mental and social skills.
Daily Life:
Diagnosis:An evaluation begins with a complete physical examination, along with a detailed history of symptoms and family hereditary disorders, including Tay-Sachs disease. A physical exam of the eyes in patients with Tay-Sachs may reveal a "cherry-red" spot in the back of the eyes, a telltale symptom of the disease.
Treatment:
Because there is no cure for Tay-Sachs disease, the goal of treatment is to make the patient comfortable. Treatment options include: Respiratory care Assistive devices Medication to reduce the patient's symptoms, a number of prescription medications are available, including seizure medications. Also Physical therapy
Research:
In 1881 Warren Tay, a British ophthalmologist, observed a "cherry red spot" in the retina of a one-year-old child with mental and physical retardation. Later, in 1896 Bernard Sachs, an American neurologist, observed extreme swelling of neurons in autopsy tissue from affected children. He also noted that the disease seemed to run in families of Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism
Additional Facts:
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