Certain specified myofibrillar myopathy (Q84643): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/585803264
@@ Property / Canonical URI: https://id.who.int/icd/entity/585803264 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_585803264
@@ Property / CURIE: CID11:ID_585803264 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_585803264
@@ Property / Canary Token: dki-india-ID_585803264 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest 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
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.