Usher Syndrome
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Usher syndrome: Facts To Know

 “Usher Syndrome” is a rare genetic disorder in which a patient has to face some difficulties in getting clear view of something or hearing. An autosomal recession can cause this disease. Generally, a child inherits this syndrome from his or her parents. If a child inherits two defective genes from his parents, he can certainly be affected by this disease. In some complex cases an affected person can suffer from blindness or deafness.

If the structure of a gene is changed in any situation, one can suffer from this syndrome. This syndrome is also known as dystrophia retinae dysacusis syndrome, rp-dysacusis syndrome, Usher-Hallgren syndrome and Hallgren syndrome.

Those who are suffering from hearing difficulties, 3 to 6 percent of them are affected by this syndrome. One baby in twenty-five thousand babies, in the developed countries, is affected by this syndrome. This syndrome derives its name from the British ophthalmologist Charles Usher who first described various traits of this syndrome.

Causes of Usher Syndrome:

Inheritance is reckoned as the main cause of this syndrome. A sudden mutation in one of the genes which are closely associated with Usher Syndrome may cause this disease. This is thought to be one of the prominent causes of this disease. Though the exact cause of this syndrome has not been pinpointed, the sudden change in the genetic structure of USH1B-G is thought to be a prominent cause of Usher I syndrome. Genetic changes in some genes such as USH2A, USH2B and USH2C can cause Usher I syndrome as well as Usher II syndrome. Changes in the structure of USH3A can cause the Usher III Syndrome.

The cochlea of the ear and the retina of the eye are influenced and controlled by a group of different genes. Therefore a fault in this gene will certainly trigger this syndrome.

Types of Usher Syndrome:

Usher Syndrome can be of three types. But children are generally affected mainly by the Usher Syndrome I and II. If a child if suffering from Usher Syndrome I, he may lose his power of hearing completely. In this situation, hearing aids can’t be helpful.. Different communication method should be applied for assisting that child to express his emotions and feelings. One can suffer from balance related problems. When an affected child reached ten years, he can face difficulties in seeing objects clearly. This may lead to complete blindness in near future.

In Usher Syndrome II, one can suffer from moderate symptoms. One can face difficulties in hearing or building up effective communication. Deterioration of vision can starts in the next stage of this disease. Detecting the symptoms of this type can appear difficult for the medical practitioners, as the symptoms of this disease are not so severe like the first type.

Gradual loss of hearing is one of the potent signs of the Usher Syndrome III. It has been observed that the people of Finland are more vulnerable to this type of syndrome. The mutation of the CLRN1 gene is thought to be main reason behind the occurrence of this syndrome. When the affected personals reached their forties, they become completely blind. This is one of the prominent signs of this syndrome.

Symptoms Usher Syndrome:

Blindness and loss of hearing are some of the common signs of this syndrome. The severity of these symptoms can vary depending upon the types of Usher syndrome, but more and less the symptoms are same.

Usher Syndrome Treatment:

Usher Syndrome is not a curable at all and this is the reason why the treatment of this syndrome is targeted on reducing the symptoms of this disease. Cochlear implants and hearing aids can help a patient to lead normal life by reducing the impact of hearing loss. Specialized schools have been set up for giving the affected children a chance to further their study. Sometimes counseling can generate better result. Scientists are experimenting on gene therapy for eradicating the symptoms of this disease but it is still in experimental stage. The affected personals should be given emotional support by their parents and their relatives.

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