Usher+syndrome

Usher Syndrome
 * # Who discovered this disorder?
 * 1)  Where, when, and under what circumstances was it discovered?  || * Charles Usher discovered this genetic disorder.
 *  His discovery was a continuation of the work done by Albrecht von Graefe and Richard Liebreich.
 * He first described usher syndrome in 1914.
 * He finalized the discovery by using a survey of 69 individuals who suffer from vision problems that are related to deafness. ||
 * 2)What are the symptoms and characteristics?
 * 1)  What age do they begin?
 * 2)  Is it fatal?
 * 3)  Are the symptoms treatable? How?  || * Hearing loss and eye an eye disorder called Retinitis pigmentosa (RP). RP causes blindness at night and loss of side vision.
 *  Type 1: occur at birth.
 * Type 2: Late adolescence
 * Type 3: Within adolescence/ childhood.
 * There is ultimately no cure for these symptoms. Hearing symptoms can be treatable depending on what type you have. Unlike hearing symptoms, Vision symptoms can not be treated.
 * Stage 1 gets little to no benefit from hearing aids, but can slightly benefit from a cochlear implant.
 * Stage 2 symptoms can usually be fixed with a hearing aid.
 * Stage 3 symptoms can usually not be fixed, but some people might benefit from a hearing aid. ||
 * 3) What is the inheritance pattern of the disorder?
 * 1)  dominant, recessive, sex-linked, autosomal, other?  || * Every type of Usher syndrome is inherited with a autosomal recessive pattern.
 * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">This means that both copies of the gene have a mutation but do not show signs. ||
 * <span style="background-color: #00ffff; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">4)Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)? || * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">No there are no environmental factors that affect the symptoms. ||
 * <span style="background-color: #00ffff; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">5)How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex? || * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">This disorder is not very common but children who are deaf or hard of hearing of a 3%-6% chance of getting this disorder.
 * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">It really affects people in developed countries, such as the US.
 * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">Around 4 babies in every 100,000 are born with Usher syndrome. ||
 * <span style="background-color: #00ffff; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">6) What tests are done to confirm a diagnosis of this disorder? || * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">Hearing and vision balance tests are done.
 * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">When babies are born they have a routine hearing test. If they fail this a follow up test is required and even genetic testing if needed. For adults or teens undergo a test called audiology evaluation, this tests how loud a sound needs to be before it's heard.
 * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">Vision testing includes: exams of the retina, peripheral vision, and the retina response to light in an exam called Electroretinogram. ||
 * <span style="background-color: #00ffff; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">7)Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.? || * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">There are many gene mutations that cause this disease for example, MYO7A, CDH23, USH2A, CLRN1.
 * <span style="background-color: #ffc6ee; font-family: &#39;Times New Roman&#39;; font-size: 14pt; vertical-align: baseline;">The gene mutation does not occur on one specific chromosome. Either parent can pass it on in a form of an autosomal recessive trait. ||


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 * <span style="font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh4.googleusercontent.com/gxpoV95Cw_Oo9yiHhRLgQ3uBPOa2B0tovIeVoOvErkLcXOhVL7hPiQ6GCyuijkfQ0tywgbxV12VafYtpQGf9K8z7YFLaBRbOn_Vpckd2kzxvx46QFV4eYN4okeGm-EnQqrJa2Gt6 width="270" height="294"]] || <span style="font-family: &#39;Times New Roman&#39;; font-size: 12pt; vertical-align: baseline;">[[image:https://lh6.googleusercontent.com/3d5Q_6801dQKmK7bGPMrP4_xLLAonzfmXn-ksfdK0D9Ml0FHvcY-JvzEOXfZn425_rculZaFW-X67iO5av6O_UA0n4NJJrBvFVGT5WL2KjdiBNyMGACCrY9DH6cjegg97rBziAcN width="298" height="119"]] ||

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