Certain specified myofibrillar myopathy (Q84643): Difference between revisions
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A miopatia miofibrilar consiste em um padrão patológico de dissolução e degradação miofibrilar levando, na maioria dos casos, ao acúmulo de miotilina, desmina e alfaB-cristalina. A maioria dos pacientes desenvolve fraqueza na terceira à quinta década, embora haja relatos de início na infância e mais tarde na vida. Alguns se manifestam como uma miopatia grave de início progressivo no adulto com ou sem sinais de envolvimento cardíaco, mas em outros os sinais cardíacos podem ser a manifestação principal ou exclusiva com cardiomiopatia, insuficiência cardíaca congestiva, bloqueio cardíaco e arritmias. | |||
| description / en | description / en | ||
Myofibrillary myopathy consists of a pathological pattern of myofibrillary dissolution and degradation leading in most cases to the accumulation of myotilin, desmin and αB-crystallin. Most patients develop weakness in the third to fifth decade, although there are reports of onset in infancy and later in life. Some manifest as a relentlessly progressive adult onset myopathy with or without signs of cardiac involvement, but in others the cardiac signs may the leading or exclusive manifestation with cardiomyopathy, congestive heart failure, heart block and arrhythmias. | |||
Revision as of 09:59, 15 August 2026
Myofibrillary myopathy consists of a pathological pattern of myofibrillary dissolution and degradation leading in most cases to the accumulation of myotilin, desmin and αB-crystallin. Most patients develop weakness in the third to fifth decade, although there are reports of onset in infancy and later in life. Some manifest as a relentlessly progressive adult onset myopathy with or without signs of cardiac involvement, but in others the cardiac signs may the leading or exclusive manifestation with cardiomyopathy, congestive heart failure, heart block and arrhythmias.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_585803264 |
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| English | Certain specified myofibrillar myopathy |
Myofibrillary myopathy consists of a pathological pattern of myofibrillary dissolution and degradation leading in most cases to the accumulation of myotilin, desmin and αB-crystallin. Most patients develop weakness in the third to fifth decade, although there are reports of onset in infancy and later in life. Some manifest as a relentlessly progressive adult onset myopathy with or without signs of cardiac involvement, but in others the cardiac signs may the leading or exclusive manifestation with cardiomyopathy, congestive heart failure, heart block and arrhythmias. |
