Epilepsy due to mitochondrial disorders (Q86439): Difference between revisions
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| description / pt-br | description / pt-br | ||
Epilepsia devida a transtorno multissistêmico que tipicamente afeta bebês, crianças e jovens adultos, tendo em comum defeitos no DNA mitocondrial. A herança materna com variabilidade fenotípica nas famílias é uma regra geral. Crises epilépticas mioclônicas são o tipo de crise mais comum. O envolvimento do sistema nervoso central é proeminente, porém com manifestações clínicas diferentes de acordo com o defeito genético. Outras condições clínicas (p. ex. diabetes, surdez, cardiomiopatia) podem também estar presentes. Exclui síndromes genéticas expressas primariamente como epilepsia. | |||
| description / en | description / en | ||
Epilepsy due to multisystem disorders typically affecting infants, children and young adults, having in common mitochondrial DNA defects. Maternal inheritance with phenotypic variability in families is the general rule. Myoclonic seizures are the common types of seizures. Central nervous system involvement is prominent but with differing clinical manifestations according to the genetic defect. Other clinical conditions (e.g. diabetes, deafness, cardiomyopathy) may be also present. Excludes genetic syndromes primarily expressed as epilepsy. | |||
Revision as of 11:50, 15 August 2026
Epilepsy due to multisystem disorders typically affecting infants, children and young adults, having in common mitochondrial DNA defects. Maternal inheritance with phenotypic variability in families is the general rule. Myoclonic seizures are the common types of seizures. Central nervous system involvement is prominent but with differing clinical manifestations according to the genetic defect. Other clinical conditions (e.g. diabetes, deafness, cardiomyopathy) may be also present. Excludes genetic syndromes primarily expressed as epilepsy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1925770864 |
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| English | Epilepsy due to mitochondrial disorders |
Epilepsy due to multisystem disorders typically affecting infants, children and young adults, having in common mitochondrial DNA defects. Maternal inheritance with phenotypic variability in families is the general rule. Myoclonic seizures are the common types of seizures. Central nervous system involvement is prominent but with differing clinical manifestations according to the genetic defect. Other clinical conditions (e.g. diabetes, deafness, cardiomyopathy) may be also present. Excludes genetic syndromes primarily expressed as epilepsy. |
