Hereditary hyperekplexia due to Glycine receptor subunit mutations (Q83851): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Hiperecplexia hereditária caracterizada por 3 fatores: rigidez generalizada após nascimento; reflexo de sobressalto excessivo após estímulo imprevisível, particularmente estímulo auditivo; e rigidez generalizada após reflexo de sobressalto que dura poucos segundos. A forma hereditária é autossômica dominante e está associada a mutação do receptor da glicina. | |||
| description / en | description / en | ||
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation. | |||
Revision as of 09:13, 15 August 2026
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_693631704 |
||
| English | Hereditary hyperekplexia due to Glycine receptor subunit mutations |
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation. |
