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In AD, many of these clumps form, disrupting the work of neurons. This By: Víctor Ramos Almirón<br />
What is TSD?<br />Is a rare disease that affects the central nervous system and is of hereditary character, autosomal and ...
people of French-Canadian/Cajun heritage.<br />The Population with Tay Sachs<br />Only 1 in 6400 babies develop Tay Sachs....
Causes of Tay-Sachs<br />The disease is caused by mutations on chromosome 15 in the HEX A gene, which produces a lack of  ...
Without this enzyme, gangliosides, particularly ganglioside GM2, increases and degenerates central nervous system.<br />
Signs or Symptoms<br />Tay–Sachs disease is classified in variant forms, based on the time of onset of neurological sympto...
Signs or Symptoms<br />  <br />-Loss of learned skills-Loss of smile, crawl, grab.-Blindness, Deafness, Paralysis.-Dementi...
-Treatment<br />There is no treatment for Tay-Sachs disease, nor there is any way to prevent or reduce the progression of ...
CLINICAL CASE<br />Lactante of a year of age, masculine sex, half-caste, natural race of Lima with time of disease of 8 mo...
Examination<br /> Fund of eye: presence of bilateral pallor of papila and cherry-red spot in the macula.<br />Biochemicalp...
THE END<br />
 Tay sachs DISEASE
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Tay sachs DISEASE

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Tay sachs DISEASE

  1. 1. In AD, many of these clumps form, disrupting the work of neurons. This By: Víctor Ramos Almirón<br />
  2. 2. What is TSD?<br />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.<br />
  3. 3. people of French-Canadian/Cajun heritage.<br />The Population with Tay Sachs<br />Only 1 in 6400 babies develop Tay Sachs. <br />Only 1 in 27 Ashkenazi Jews develop the fatal disease. <br /><ul><li>Now also prevalent in non-Jewish populations, including people of French-Canadian/Cajun heritage.</li></li></ul><li>A child can only have Tay-Sachs disease if both parents are carriers of the gene. When two carriers have a child together, there's a:<br />
  4. 4. Causes of Tay-Sachs<br />The disease is caused by mutations on chromosome 15 in the HEX A gene, which produces a lack of hexosaminidase A.<br />
  5. 5. Without this enzyme, gangliosides, particularly ganglioside GM2, increases and degenerates central nervous system.<br />
  6. 6. Signs or Symptoms<br />Tay–Sachs disease is classified in variant forms, based on the time of onset of neurological symptoms.<br />Infantile JuvenileAdult/Late Onset<br />3 to 10 months  two and 10 years 20 and 30 years<br />Extremely rare   usually non-fatal<br /> <br />
  7. 7. Signs or Symptoms<br />  <br />-Loss of learned skills-Loss of smile, crawl, grab.-Blindness, Deafness, Paralysis.-Dementia<br />-Unable to swallow<br />-Muscle atrophy<br />-Cherry-red spot in the back of their eyes  <br /> <br />
  8. 8. -Treatment<br />There is no treatment for Tay-Sachs disease, nor there is any way to prevent or reduce the progression of this disorder. <br />
  9. 9. CLINICAL CASE<br />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 <br />noise), progressive loss of muscular force and impede to support the head and the thorax. <br /> At 8 months old loss of vision accompanied by progressive spasticity from the low members and recurrent bronchitis.<br />
  10. 10. Examination<br /> Fund of eye: presence of bilateral pallor of papila and cherry-red spot in the macula.<br />Biochemicalprofile: <br />Total Hexosaminidase 125.0 nM, Hexosaminidase A: 0%. <br />Other bloodtests withoutsignificantalterations.<br /> The patient evolved with physical and neurological progressive deterioration, beingdiagnosedwith TSD<br />Slide 39<br />
  11. 11. THE END<br />

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