Tay Sachs Rachel Stang Biology, 6 th Ms. Martinson

Other Names  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.

Hex A Gene Where does the mutation happen?

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 French-Canadian, 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  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 7 th, 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 17 th, 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, Print treatment html treatment html Sachs_in_memory_of_Elise.html Sachs_in_memory_of_Elise.html