Deafness - opticoacoustic nerve atrophy - dementia (Q61192): Difference between revisions
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| description / pt-br | description / pt-br | ||
Esta síndrome é uma doença degenerativa generalizada do sistema nervoso central caracterizada por perda auditiva neurossensorial com início na infância, seguida na adolescência por atrofia progressiva do nervo óptico com perda de visão e na idade adulta por demência. Foi descrito em três pacientes (um menino e seus dois tios maternos). É provável que seja transmitido como um traço recessivo ligado ao X. Uma mutação no gene TIMM8A (localizado em Xp22) foi identificada em um paciente. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
