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Tay sachs disease

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Erika Foschi Period 1

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Tay sachs disease

  1. 1. Tay-Sachs Disease
  2. 2. Symptoms• There are 3 types of Tay-Sachs disease, Classic Infantile, Juvenile and Late Onset.Classic Infantile Juvenile Late Onset•Symptoms usually occur •Symptoms begin to occur •Adults with Late Onset Tay-when the child is about 6 sometime during childhood. Sachs may have firstmonths old showing signs during their •Early symptoms include slurred childhood, such as speech•It starts out with slowed speech, muscle weakness, impediments or just notdevelopment and the a swallowing and breathing being very athletic or strong.gradual loss in skills such as difficulties.coordination, swallowing and •Symptoms that occur •Later symptoms include abreathing and reduced vision. during adulthood may be decline or loss in the ability to muscle weakness and•By the time the child has walk, eat and communicate and mental health problems.reached 2 years of age, they are very prone to respiratory These then progress into amay experience seizures as diseases, pneumonia and decline in mobility andwell as a loss of mental and seizures. breathing a swallowingmuscle functions. difficulties.
  3. 3. Diagnosis• Tay-Sachs disease is diagnosed through a simple blood test that tests the Hexosaminidase A (Hex A) levels in the blood. A DNA test can also be administered to determine whether or not a person has Tay-Sachs.• Children with Infantile Tay-Sachs are often diagnosed by a characteristic “red dot” found on the retina of the eye. However this dot is not usually found in those with Juvenile or Late Onset Tay-Sachs.• Tay-Sachs is a hereditary disease, so in order to get it both parents must be carriers of the gene. People of a french-canadanian, Luisana Cajun or ashkenazi jewish descent are at higher risk of being diagnosed with Tay- Sachs. “Dot” found in the retina, commonly diagnosed as Infantile Tay-Sachs.
  4. 4. Causes• Tay-Sachs disease is caused when a person is born with a mutation in their Hex A gene, the gene in your DNA that provides the instructions to create the enzyme beta-hexosaminidase. People born with Tay-Sachs disease are born without or with very reduced levels of beta-hexosaminidase enzyme, which cause the lipid GM2 ganglioside to build up in cells which causes damage to the cells over time. GM2 Ganglioside Molecule
  5. 5. Treatments• Unfortunately, there is no cure for Tay- Sachs yet but there are ways of making life more comfortable for those living with the diease such as symptom management methods and massage therapy.
  6. 6. Prognosis• There is no treatment for Tay-Sachs disease but there are ways of making life more comfortable for those living with it. – Massage therapy is used to promote relaxation – Feeding tubes for those who have lost the ability to eat or swallow – Wheelchairs, Canes and Walkers for those facing mobility difficulties – Support Groups to provide help and care to families and those suffering from the disease.
  7. 7. Bibliography• ntsad.org. National Tay-Sachs and Allied Diseases.Web. 21 Oct. 2012• “Tay-Sachs disease” ncbi.nlm.nih.gov. A.D.A.M. inc. 2012. Web. 21 Oct. 2012.< http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/>• “Tay-Sachs disease” kidshealth.org. The Nemours Foundation 1995-2012. Web. 21 Oct. 2012. <http:// kidshealth.org/parent/medical/genetic/tay_sachs.html#> • Images• http://taysachsdisease.ucoz.com/Tay-sachs.jpg• http://themedicalbiochemistrypage.org/images/gm2ganglioside.jpg• http://www.goldbamboo.com/images/content/9556-350px- autorecessive-tay-sachs-tay-sachs-disease.gif

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