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Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Nonsyndromic deafness constitutes 75% of all hearing loss cases, and an estimated 100 genes are thought to be linked to this condition.
Hearing loss is a partial or total inability to hear. [5] Hearing loss may be present at birth or acquired at any time afterwards. [6] [7] Hearing loss may occur in one or both ears. [2] In children, hearing problems can affect the ability to acquire spoken language, and in adults it can create difficulties with social interaction and at work. [8]
Y-linked deafness, type 1 is a very rare type of hereditary non-syndromic deafness characterized by progressive hearing loss that exclusively affects males. It has been described in 42 males from 2 multi-generational Chinese families.
Non-syndromic hearing loss can occur through multiple pathways including autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance patterns. [ 15 ] 69 genes and 145 loci have been discovered to be involved in the genetic heterogeneity of non-syndromic hearing loss, and the phenotype of the disorder is largely associated with ...
Mutations in the gene encoding otoferlin are a cause of a neurosensory nonsyndromic recessive deafness, DFNB9.The diagnosis is identified by molecular genetic testing.. In October 2023 two small clinical trials for a gene therapy restoring the defective Otoferlin via an adeno-associated virus (AAVs) have been announced.
The most common syndromic forms of hearing impairment include (dominant) Stickler syndrome and Waardenburg syndrome, and (recessive) Pendred syndrome and Usher syndrome. Mitochondrial mutations causing deafness are rare: MT-TL1 mutations cause MIDD (Maternally inherited deafness and diabetes) and other conditions which may include deafness as ...
Mutations in this gene have been associated with progressive postlingual hearing loss, non syndromic deafness [15] and profound prelingual deafness. [7] TMC1 mutations are not associated with other symptoms or abnormalities, which is known as Nonsyndromic hearing loss and indicates that TMC1 functions mainly in auditory sensation. [16]
Auditory processing disorder (APD) is a neurodevelopmental disorder affecting the way the brain processes sounds. [2] Individuals with APD usually have normal structure and function of the ear, but cannot process the information they hear in the same way as others do, which leads to difficulties in recognizing and interpreting sounds, especially the sounds composing speech.