tay+sach's

Brittani Smith



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The most common form of Tay-Sachs disease is in infants. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only in the beginning of early childhood. =====

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Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen in the infants. Characteristic features include muscle weakness, loss of muscle coordination and other problems with movement, speech problems, and mental illness. =====

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=== Causes: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of a baby with autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. ===

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Symptoms of this disease:


 * Seizures
 * Behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out
 * Increased startle reaction
 * Decreased eye contact
 * Increasing irritability
 * Slow body growth with increasing head size
 * Delayed mental and social skills

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Treatments for Tay Sach's: Medical treatments are directed at supporting and comforting patients with Tay-Sachs. There is no curable treatment discovered yet.

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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 symptom of the disease. A blood test can measure hex A activity. The biological parents may also have their blood tested to determine if they are genetic carriers of Tay-Sachs. The blood sample may be used for DNA testing to determine genetic mutations that could cause hex A deficiency.
 * Blood test**

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History of Tay Sach's: [|**Tay-Sachs disease**] is named after two doctors. The first was the British physician, Warren Tay, who first described the red spot on the retina that is indicative of the disease in 1881. The second was the American physician, Bernard Sachs, who described the changes that occur within cells. Dr. Sachs also noted an increased prevalence of [|**Tay-Sachs**] disease in the eastern and central European Jewish (Ashkenazi) population.

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