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TAY SACHS - Tay-Sach's disease _

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					Tay-Sachs disease

       Chris Iorizzo P.3
         Ms.Kundsen
Cause of disorder
 The pattern of inheritance for Tay-Sachs
  Disease is autosomal recessive.
A person who
  inherits this gene for Tay-Sach’s will be a
  carrier. Carriers are usually unaffected but can
  pass the gene onto any children they may have.
  If one or both parents is a carrier, there is a
  50% chance that each child of theirs will also
  be a carrier.
A child who inherits two copies of
  the gene (one from each parent) will have Tay-
  Sachs Disease. If both parents are carriers,
  there is a 25% chance of this happening. Tay-
  sach’s is not do to a chromosomal disorder and
  and there is no specific gene that has been
  located that causes Tay-sachs.
Karyotype Graphic
Statistics
There is a 25% chance of producing a
 baby with Tay-Sachs if u are a carrier
.00027% develop this disease
 worldwide
.05% of Ashkenazi Jewish decent
 develop this disease
Sachs is particularly high among
 people of Eastern European and
 Ashkenazi Jewish descent.
Signs
 Tay-Sachs disease is a fatal genetic lipid
  storage disorder in which harmful quantities
  of a fatty substance called ganglioside GM2
  build up in tissues and nerve cells in the
  brain.
 Patients with Tay-Sachs disease frequently
  will accumulate mucus in their lungs.
Symptoms
 Infants with Tay-Sachs disease appear to develop
  normally for the first few months of life. Then, as nerve
  cells become distended with fatty material, a relentless
  deterioration of mental and physical abilities occurs.
  The child becomes blind, deaf, and unable to swallow.
  Muscles begin to atrophy and paralysis sets in. Other
  neurological symptoms include dementia, seizures,
  and an increased startle reflex to noise. A much rarer
  form of the disorder occurs in patients in their twenties
  and early thirties and is characterized by an unsteady
  gait and progressive neurological deterioration.
  Persons with Tay-Sachs also have "cherry-red" spots
  in their eyes.
Graphic/Image


                 QuickTime™ an d a
                   decompressor
          are need ed to see this p icture .




This is a picture of a child that
 developed Tay-sachs disease as
 an infant
Quality Of Life
 Tay-Sachs disease is a fatal neurological
  genetic disorder that although the quality will
  not improve and they will still die.
 People who are just carriers of the disease
  can live a normal productive life, and only if
  they have children with another person who
  who is a carrier of the disease can they have
  a child who has the disease.
Diagnosis/Detection
 Pregnant mothers can have their unborn babies
  tested for the Hex A deficit that causes Tay-Sachs
  disease. If the tests do not detect Hex A the infant
  will have Tay-Sachs disease. If the tests do detect
  Hex A the infant won't have it. Between the 10th and
  12th weeks of pregnancy a mother can get a
  chorionic villus sampling in which a small sample of
  the placenta is drawn into a needle or a small tube
  for analysis. Between the 15th and 18th weeks of
  pregnancy the mother can have an amniocentesis to
  test for the Tay-Sachs gene. In this test a needle is
  inserted into the mother's belly to draw a sample of
  the amniotic fluid that surrounds the fetus.
Treatments/cures
Currently there is no real cure for
 tay-sachs disease.
 There are however some treatments
 for patients with Tay-Sachs disease.
 Patients with Tay-Sachs disease
 frequently will accumulate mucus in
 their lungs. To reduce the lung mucus,
 respiratory therapists have extensive
 experience in providing chest
 physiotherapy (CPT) and training
 families to provide CPT to their child
 when at home.
History and Current
Research
 Tay-Sachs is named after Warren Tay and
  Bernard Sachs. Warren Tay was a British
  ophthalmologist who in 1881 described a
  patient with a cherry-red spot on the retina of
  the eye. Bernard Sachs was a New York
  neurologist whose work several years later
  provided the first description of the cellular
  changes in Tay-Sachs disease. Sachs also
  recognized the familial nature of the disorder,
  and, by observing numerous cases, he noted
  that most babies with Tay-Sachs disease were
  of eastern European Jewish origin.
Genetic counseling
 Couples who are considering having children or
  are already expecting can get screened for the
  Tay-Sachs gene with a simple blood test. If
  both the mother and father carry the
  Tay-Sachs gene, an obstetrician/gynecologist
  may refer the couple to a genetic counselor.
 Pregnant mothers can have their unborn babies
  tested for the Hex A deficit that causes Tay-Sachs
  disease. If the tests do not detect Hex A, the infant
  will have Tay-Sachs disease. If the tests do detect
  Hex A, the infant won't have it.
Pedigree
Punnett Square
Story of courage
           Elise appeared completely normal at birth
            and reached the developmental milestones
            she should have for the first few months of
            her life. At nine months old, she was able to
            roll over onto her stomach and hold toys,
            but she was not able to sit up. Even though
            the doctor said not to worry, we were
            worried.
           By the time Elise was 13 months old,
            despite physical and occupational therapy,
            her fine and gross motor skills had
            regressed to the point where she could no
            longer roll over or hold toys.
           Elise’s parents were told she wouldn’t live
            to be three years old.
           Eventually Elise didn’t cry or laugh or do
            anything and required 24 hour care.
           Elise’s family felt that they learned the
            wisdom of a lifetime in just a few short
            years with her.
Bibliography

    Genetic Interest Group,
http://www.gig.org.uk/genesandyou_taysachsdisease.htm

    Kaiser Permanente,
http://www.permanente.net/homepage/kaiser/pdf/33213.pdf

    Kids Health, The Nemours Foundation,
http://kidshealth.org/parent/medical/genetic/tay_sachs.html#

   Mama’s Health, http://www.mamashealth.com/tay.asp

				
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