Thursday 20 February 2020

SYNDROME THAT AFFECT HEARING


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USHER SYNDROME (VESTIBULOCERBELLAR ATAXIA)
It is a rare genetic condition caused by a mutation in any one of at least 11 genes resulting in a combination of visual impairment and hearing loss. Usher syndrome is characterized by partial or total loss of hearing loss and vision.
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Causes:
·         Autosomal ressive Type 1 – CDH23, MY07A, PCDH15, USH1C, USH1G
Type II – USH2A, GPR98
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Characteristics:
·         Type I – Retinitis Pigmentosa
·         Vestibular dysfunction
·         Profound hearing loss
·         Type II – Retinitis pigmentosa
·         Sloping hearing loss (Variable degree)
·         Type III – Retinitis Pigmentosa
·         Vestibular dysfunction
·         Initially normal hearing or mild loss
·         Then, hearing loss progresses
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Hearing Loss
·         Sensory neural (Congenital in Type I & II)
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