Deafness - opticoacoustic nerve atrophy - dementia (Q61192): Difference between revisions
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CID11:ID_307231729 | |||||||||||||||
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dki-india-ID_307231729 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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Latest revision as of 08:41, 14 August 2026
This syndrome is a generalised degenerative disease of the central nervous system characterised by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. It has been described in three patients (a boy and his two maternal uncles). It is likely to be transmitted as an X-linked recessive trait. A mutation in the TIMM8A gene (located at Xp22) has been identified in one patient.
| Language | Label | Description | Also known as |
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| default for all languages | ID_307231729 |
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| English | Deafness - opticoacoustic nerve atrophy - dementia |
This syndrome is a generalised degenerative disease of the central nervous system characterised by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. It has been described in three patients (a boy and his two maternal uncles). It is likely to be transmitted as an X-linked recessive trait. A mutation in the TIMM8A gene (located at Xp22) has been identified in one patient. |
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CID11:ID_307231729
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dki-india-ID_307231729
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Concluído
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13 August 2026
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