tay-sachs+jacklyn+h

+Name of Disease/Disorder Tay-Sachs (Autosomal Recessive)  ** Description: (TNR, 12, Bold) **  · Symptoms appear by six months of age  · Over time the child becomes blind, deaf and mentally retarded and paralyzed Children with Tay-Sachs  · Children with Tay-Sachs lack a vital enzyme, which is hexosaminindase, which is needed for the body to break down the fatty waste substance found in brain cells . Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each transmits a defective gene to their child. A child who inherits two Tay-Sach genes produces nonfunctional Hex-A enzyme and is certain to develop Tay-Sachs disease. A person with only one Tay-Sachs gene is healthy but is a Tay-Sachs carrier. When both parents are carriers, there is a 25% chance that they will have a child with Tay-Sachs.
 * Inheritance: **

 **Symptoms: **<span style="font-family: 'Times','serif'; font-size: 14pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Mental retardation <span style="font-family: 'Times New Roman','serif'; font-size: 12pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Disability <span style="font-family: 'Times New Roman','serif'; font-size: 12pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Brain disorder <span style="font-family: 'Times New Roman','serif'; font-size: 12pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Spinal cord disorder <span style="font-family: 'Times New Roman','serif'; font-size: 12pt;"> <span style="line-height: normal; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Nerve disorder

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Daily Life: **<span style="font-family: 'Times','serif'; font-size: 14pt;">

<span style="font-family: 'Times','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Diagnosis: ** <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l5 level1 lfo4; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Tay-Sachs is diagnosed by a visible cherry-red spot in the back of the eye. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l5 level1 lfo4; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Many parents also choose to take their child to the doctor after they start to realize development delays. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l5 level1 lfo4; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">Around 10-14 months of age, children start to exhibit trouble tracking or focusing with their eyes. <span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l5 level1 lfo4; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 12pt;">The cherry-red spot is quickly seen and an initial diagnoses of Tay-Sachs is made. <span style="font-family: 'Times','serif'; font-size: 12pt;">

<span style="font-family: 'Times','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Treatment: ** <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l3 level1 lfo5; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">There is no cure for this disease, or way of slowing down the progression, therefore, treatment for Tay-Sachs is focused on controlling the symptoms. <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l3 level1 lfo5; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatments may include medication, and techniques to keep the air way open. <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l3 level1 lfo5; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Several different medications are available to treat symptoms of Tay-Sachs like anticonvulsant medicine can be used for seizures.

<span style="font-family: 'Times','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">ResearAch: ** <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l4 level1 lfo6; mso-outline-level: 3; text-indent: -0.25in;"> · Over the past several decades, researchers have developed screening tools that have reduced the accurance of Tay-Sachs. <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l4 level1 lfo6; mso-outline-level: 3; text-indent: -0.25in;"> · Currently there is no effective way to delay the progression of the disease. <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l4 level1 lfo6; mso-outline-level: 3; text-indent: -0.25in;"> · Scientist around the world are investigating a range of treatment options for a number of diseases, including Tay-Sachs, that stem from excess cell products building up in the nerve cells or other cell types. <span style="color: black; font-family: 'Times','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Additional Facts: ** <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo7; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="font-family: 'Times','serif'; font-size: 12pt;">Tay-Sachs carriers are found most frequently among families of Eastern European Jewish descent. <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo7; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="font-family: 'Times','serif'; font-size: 12pt;">In the U.S today, approximately one in every 27 Jews is a Tay-Sachs carrier. <span style="line-height: 14.25pt; margin: 0in 0in 0pt 0.5in; mso-add-space: auto; mso-list: l1 level1 lfo7; mso-outline-level: 3; text-indent: -0.25in;"> · <span style="font-family: 'Times','serif'; font-size: 12pt;">Rarer forms of Tay-Sachs disease that develop later in a persons life are due to low levels of the Hex-A enzyme, instead of a complete deficiency of Hex-A such as the infinite form of the disease.

<span style="font-family: 'Times','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Punnett Square: **<span style="font-family: 'Times','serif'; font-size: 14pt;">

<span style="font-family: 'Times New Roman','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Pedigree Chart: **<span style="font-family: 'Times','serif'; font-size: 14pt;"> <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 14pt;">

<span style="font-family: 'Times New Roman','serif'; font-size: 14pt;"> **<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 14pt;">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 14pt;">Resources: **<span style="font-family: 'Times New Roman','serif'; font-size: 14pt;">
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