Leigh's+Disease

Philip LeRoy Biology 1 honors 1st block Ms. Beatty

I'm not sure why you have me down for leighs disease but i asked for Tay-Sachs Disease

Introduction: The name of my disorder is Tay-Sachs Disease. Other names for this disease are: Mode of Inheritance: This disease is inherited through an autosomal recessive pattern and both copies of the genes have mutations. This is a normal human karyotype because Tay-Sachs Disease cannot be detected by a karyotype
 * B variant GM2 gangliosidosis
 * GM2 gangliosidosis, type 1
 * HexA deficiency
 * Hexosaminidase A deficiency
 * Hexosaminidase alpha-subunit deficiency (variant B)
 * Sphingolipidosis, Tay-Sachs
 * TSD

Clinical Description of this Disorder: Tay-Sachs Disease occurs many times in babies and can effect people later in life but this type is extremely rare. When a child has Tay-Sachs it loses strength in muscles used for movement. The child normally doesn"t show signs of anything wrong with it until about three to six months old. Motor skills such as turning over, sitting up, crawling, and walking are effected and are made almost impoosble to do. The kids with Tay-Sachs develop an extremely exaggerated startle reaction to very loud noises. As the disease worsens and progresses seisures, vision loss, hearing loss, complete paralysis, and death are common. Externally, children with this disease look normal for the first few months of their life but as they get older and start to lose movement their body slumps and inside their eyes there can be a red spot called a :cherry-red spot". Tay-Sachs is commonly found in Ashkenazi (eastern European) Jews. Many of these peoples are carriers of this deadly disease.

Treatment: Currently there is not a treatment to the actual disease. There are support medicines like anticoinvulsants for the seizures that come along with Tay-Sachs. Other support treatments include proper nutrition techniques to keep the lungs open although after a while the child may need a feeding tube.

Detection: There are tests for this disease to detect if you are a carrier or even if you have this disease. These include types of heat tests and gene testing. For the infant version of Tay-Sachs symptoms will not show until the baby is about three months of age. There are no differences between a healthy newborn and a baby born with Tay-sachs. This disease can be detected prenatally by using a blood test but the symptoms cannot be effected.

Sources://Tay-Sachs Disease//. Gentics Home Reference, 09/08. Web. 25 Apr 2010. .

Bartoshesky, Louis. "Tay-Sachs Disease." //Kids Health//. Nemours, 08/08. Web. 25 Apr 2010. .

"Normal Human Karyotype." //Genetics Home Reference//. U.S. National Library of Medicine, 04/18/10. Web. 25 Apr 2010. <http://ghr.nlm.nih.gov/handbook/illustrations/normalkaryotype