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There was, and still is, a lot of speculation about what caused Beethoven's hearing loss. As with most medical conditions, there can be influences from genetic and environmental factors.
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
One of the genes that leads to deafness and a white coat in cats when mutated, KIT, [56] has been found to increase MITF expression. [57] Lethal white syndrome is a syndrome in horses caused by mutations in both copies of EDNRB. It leads to death from intestinal pseudo-obstruction due to Hirschsprung's disease.
An analysis of locks of Ludwig van Beethoven’s hair suggest he had lead poisoning. It may have contributed to chronic ailments, deafness and — ultimately — his demise.
Around 15-20% of newborns with Down syndrome are also diagnosed with some degree of congenital hearing loss. [13] Children with Down syndrome commonly have glue ear, which can lead to infections in the ear, and may cause hearing loss. [14] Glue ear is a condition in which the middle part of the ear behind the eardrum fills with fluid. [15]
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[1] [13] Evidence so far still suggests a strong genetic component, with one of the largest and most recent studies estimating the heritability at 83%. [14] Many of the non-autistic co-twins had learning or social disabilities. For adult siblings the risk for having one or more features of the broader autism phenotype might be as high as 30%. [15]
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