Transcript Tay Sach`s

Tay Sachs
Rachel Stang
Biology, 6th
Ms. Martinson
Other Names
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B variant GM2 gangliosidosis
GM2 gangliosidosis, type 1
HexA deficiency
Hexosaminidase A deficiency
Hexosaminidase alpha-subunit deficiency (variant B)
Sphingolipidosis
TSD
Type of Disorder
 Tay Sachs is an autosomal recessive disorder. You receive
the gene from your parents.
Where does the mutation happen?
Hex A Gene
Symptoms
 Tay Sachs affects the muscular system.
 You cannot tell a child has the disorder by looking at them.
 The first symptoms show up around three to six months of age. A baby will have low
muscle tone and muscle contractions while sleeping.
 At six to ten months, a baby will lose skills, such as sitting, that they previously had.
Also, they will not meet milestones during that time.
 Between eight to ten months, a baby will lose their vision.
 A baby will have had a seizure by their first birthday.
Diagnosis
 Parents can test by having their blood drawn. This is recommended if you
are of Ashkenazi Jewish descent and/or you have a family history of Tay
Sachs.
 Children can also be tested if they are showing symptoms.
 The blood is tested for a
lack or mutation of the
hex A gene.
 This can be done at any age.
Inheritance
 Carriers of the disorder are generally Ashkenazi (Eastern
European) Jewish, but can also be found from FrenchCanadian, Cajun, and Irish descent.
 Males and females have an equal chance of getting the
disorder.
Inheritence of Tay Sachs
Probability
 One out of every 30 people with Ashkenazi Jewish roots
carry the disorder.
 One out of every 300 individuals with roots in other places
carry the disorder.
Prognosis
 Tay Sachs is deadly.
 Children usually die by the age of four or five years old.
Treatment or Cure?
 Tay Sachs cannot be cured, but there are some ways to ease the pain
of the patient.
 Patients can be given chest physiotherapy (CPT) to aid in respiratory
care.
 Feeding tubes can be used for the child, as eating often aggravates
respiratory issues.
 Physical therapy can be used to help loosen the muscles and joints.
Current Research
 Right now, there is not very much research on Tay Sachs.
The University of Minnesota is conducting a study on the
development of the disorder.
Genetic Counseling
 Genetic Counseling is the way to diagnose Tay Sachs.
 Normally a DNA sample would find a disorder in an
unborn child, but for Tay Sachs, a blood sample is
necessary.
Support Groups
 National Tay Sachs & Allied Diseases Association, Inc.
(NTSAD)
Harry’s Story
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Sharon and Steven Hoffman were overjoyed with the news that they were going to have a
baby. This wonderful news came along with the bad news that their son would have Tay
Sach’s Disease. Sharon and Steven decided to keep their pregnancy, even though their
doctor advised them to terminate it. June 7th, 1998 Sharon gave birth to a beautiful little
boy, Harry.
While Harry was alive, his parents were determined to give him as full of a life as they
could. He was treated as normal as possible. With the help of a nurse, Harry had a life
full of excitement and fun.
After his death on February 17th, 2001, the Hoffmans created the Harry Hoffman fund, an
account with money specified not only towards finding a cure for Tay Sach’s, but for the
families who are going through the struggle of raising a child with the disorder. Sharon
and Steven are trying to honor Harry’s memory by giving other children with Tay Sach’s
as full of a life as possible.
Bibliography
Freedman, Jeri. Tay-Sachs Disease. New York: Chelsea House, 2009. Print.
http://www.clinicaltrials.gov/ct2/show/NCT00668187?term=Tay+Sachs&rank=1
http://www.discern-genetics.org/discern_quality_criteria.php?q=1&g=5
http://www.freewebs.com/lerikavelarde/
http://ghr.nlm.nih.gov/condition/tay-sachs-disease
http://www.healthfinder.gov/orgs/HR0336.htm
http://www.hovied.com/world/2010/tay-sachs-disease-tay-sachs-reasearch-tay-sachs-treatment-0205444.html
http://www.mayoclinic.org/tay-sachs-disease/
http://my.clevelandclinic.org/disorders/tay-sachs_disease/hic_tay-sachs.aspx
http://www.northjersey.com/community/104395134_Fighting_Tay-Sachs_in_memory_of_Elise.html
http://www.nytimes.com/2006/08/24/nyregion/24disease.html
http://www.questdiagnostics.com/kbase/topic/mini/hw182975/overview.htm
http://qwickstep.com/search/monohybrid-inheritance.html
http://www.tay-sachs.org/screening_standards.php
http://www.taysachsinfo.com/people-in-real-life.html
http://www.theharryhoffmanfund.com/index.php