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Tay sachs DISEASE
1. In AD, many of these clumps form, disrupting the work of neurons. This By: Víctor Ramos Almirón
2. What is TSD? Is a rare disease that affects the central nervous system and is of hereditary character, autosomal and recessive, that causes severe collateral effects, both physical and mental.
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4. Causes of Tay-Sachs The disease is caused by mutations on chromosome 15 in the HEX A gene, which produces a lack of hexosaminidase A.
6. Signs or Symptoms Tay–Sachs disease is classified in variant forms, based on the time of onset of neurological symptoms. Infantile JuvenileAdult/Late Onset 3 to 10 months two and 10 years 20 and 30 years Extremely rare usually non-fatal
7. Signs or Symptoms -Loss of learned skills-Loss of smile, crawl, grab.-Blindness, Deafness, Paralysis.-Dementia -Unable to swallow -Muscle atrophy -Cherry-red spot in the back of their eyes
8. -Treatment There is no treatment for Tay-Sachs disease, nor there is any way to prevent or reduce the progression of this disorder.
9. CLINICAL CASE Lactante of a year of age, masculine sex, half-caste, natural race of Lima with time of disease of 8 months that according to the mother begins with "frights" (stretches arms and legs to any noise), progressive loss of muscular force and impede to support the head and the thorax. At 8 months old loss of vision accompanied by progressive spasticity from the low members and recurrent bronchitis.
10. Examination Fund of eye: presence of bilateral pallor of papila and cherry-red spot in the macula. Biochemicalprofile: Total Hexosaminidase 125.0 nM, Hexosaminidase A: 0%. Other bloodtests withoutsignificantalterations. The patient evolved with physical and neurological progressive deterioration, beingdiagnosedwith TSD Slide 39