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- Sordera no sindrómica es una enfermedad que se caracteriza por la pérdida auditiva que ocurre sin otros síntomas; por ejemplo no se asocia con ninguna otra condición. La sordera es la enfermedad más común que afecta la capacidad humana de comunicarse; más de 50 % de los casos de sordera temprana son causados por factores genéticos. Hasta el momento se han descrito 40 loci para la sordera no-sindrómica (sordera sin otros trastornos o síndromes asociados) y se estima que el número de genes involucrados en esta enfermedad asciende a más de 500. Las mutaciones en genes nucleares como los de la conexina 26, la miosina VIIA, el factor homólogo de coagulación C, la colágena y los canales de K+, así como en los genes mitocondriales que codifican para los RNAs de transferencia para serina y leucina, están asociados a la sordera no-sindrómica en pacientes con diversos grados de pérdida auditiva y en animales de experimentación. La identificación de estos genes brinda la posibilidad de la detección de mutaciones en los genes involucrados en la sordera, lo cual es de suma importancia para el diagnóstico temprano de la enfermedad.
* Datos: Q9079046 (es)
- 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. Genetic changes are related to the following types of nonsyndromic deafness.
* DFNA: nonsyndromic deafness, autosomal dominant
* DFNB: nonsyndromic deafness, autosomal recessive
* DFNX: nonsyndromic deafness, X-linked
* nonsyndromic deafness, mitochondrial Each type is numbered in the order in which it was described. For example, DFNA1 was the first described autosomal dominant type of nonsyndromic deafness. Mitochondrial nonsyndromic deafness involves changes to the small amount of DNA found in mitochondria, the energy-producing centers within cells. Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. The inner ear consists of three parts: a snail-shaped structure called the cochlea that helps process sound, nerves that send information from the cochlea to the brain, and structures involved with balance. Loss of hearing caused by changes in the inner ear is called sensorineural deafness. Hearing loss that results from changes in the middle ear is called conductive hearing loss. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic deafness involve changes in both the inner ear and the middle ear; this combination is called mixed hearing loss. The severity of hearing loss varies and can change over time. It can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The loss may be stable, or it may progress as a person gets older. Particular types of nonsyndromic deafness often show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones. (en)
- Per sordità non sindromica si intende un tipo di sordità non associato ad altre patologie più complesse (quali la sindrome di Alport, la sindrome di Waardenburg, la sindrome di Usher e la sindrome di Pendred, od altre meno frequenti). (it)
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- 14819 (xsd:nonNegativeInteger)
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- Nonsyndromic deafness (en)
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- Non-syndromic genetic deafness (en)
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- Per sordità non sindromica si intende un tipo di sordità non associato ad altre patologie più complesse (quali la sindrome di Alport, la sindrome di Waardenburg, la sindrome di Usher e la sindrome di Pendred, od altre meno frequenti). (it)
- Sordera no sindrómica es una enfermedad que se caracteriza por la pérdida auditiva que ocurre sin otros síntomas; por ejemplo no se asocia con ninguna otra condición. La sordera es la enfermedad más común que afecta la capacidad humana de comunicarse; más de 50 % de los casos de sordera temprana son causados por factores genéticos. Hasta el momento se han descrito 40 loci para la sordera no-sindrómica (sordera sin otros trastornos o síndromes asociados) y se estima que el número de genes involucrados en esta enfermedad asciende a más de 500.
* Datos: Q9079046 (es)
- 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. Genetic changes are related to the following types of nonsyndromic deafness.
* DFNA: nonsyndromic deafness, autosomal dominant
* DFNB: nonsyndromic deafness, autosomal recessive
* DFNX: nonsyndromic deafness, X-linked
* nonsyndromic deafness, mitochondrial (en)
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- Sordera no sindrómica (es)
- Sordità non sindromica (it)
- Nonsyndromic deafness (en)
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- Nonsyndromic deafness (en)
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