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paula c

on 25 March 2013

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Transcript of Tay-Sachs

Tay-Sachs a genetic disorder Why? Insertion on chromosome 15 (HEXA gene) Learning more about Tay-Sachs disease (2011, March 17).National Human
Genome Research Institute. Retrieved March 18,2013 from http://www.genome.gov/10001220
Kaback, M.M & Desnick, R.J. (2011)Hexosaminidase A Deficiency.In
NCBI(National Center for Biotechnology Information. Retrieved March 18,2013 from: http://www.ncbi.nlm.nih.gov/books/NBK1218/
National Institute of Neurological Disorders and Stroke (2011). Tay-Sachs
Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS).National Institute of Neurological Disorders and Stroke (NINDS). Retrieved March 17, 2013, from http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
National center for biotechnology Information (2012). Tay-Sachs disease -
PubMed Health. National Center for Biotechnology Information. Retrieved March 18, 2013, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
Bartoshezky, L. E. (2011, May 11). Tay-Sachs Disease. KidsHealth. Retrieved
March 18, 2013, from http://kidshealth.org/parent/medical/genetic/tay_sachs.html Tay-Sachs There are three forms of Tay-Sachs... Infantile Tay-Sachs
No enzyme production.
Life expectancy: 4 years old.. This is a genetic disorder, therefore there is no cure... Genetic disorder that attacks the nervous system.
Mutation in chromosome 15.
Enzyme (hexosaminidase A) is missing.
Gangliosides accumulate. (GM2)
Fatal Juvenile Tay-Sachs
No/low enzyme production.
Between the ages of 2 and 10.
Fatal Late-onset Tay-Sachs
Low enzyme production.
Patient is between 20 and 40 years old.
Can be treated . Symptoms Inability to swallow Seizures and spasms Blindness and deafness Dementia and deterioration of mental and social skills Loss of muscle tone and strength. Because nerve cells are damaged Patients will have a cherry red spot in the retina of their eye. A feeding tube is needed Medication is used to control seizures since they are harmful to the brain. Passed on as recessive allele. Most common in:
Ashkenazi Jews from eastern Europe.
Cajun community from Louisiana.
Non-jew French-Canadian from Quebec. By Camila de Icaza & Paula Cevallos However, several clinical trials are made to find an effective treatment, involving enzyme replacement therapy. References Picture links http://www.autismspeaks.org/family-services/epilepsy
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