Desmin myopathy (Q84630): Difference between revisions
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A miopatia por acúmulo de desmina é uma classe de distúrbios musculares produzidos por desmina anormal e caracterizada por uma desorganização da rede de filamentos de desmina, o acúmulo de agregados contendo desmina insolúvel e alterações destrutivas na organização sarcomérica dos músculos estriados. Os fenótipos clínicos são heterogêneos, com miopatia esquelética progressiva, cardiomiopatia e insuficiência respiratória como as características mais proeminentes. A maioria das mutações da desmina são autossômicas dominantes. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Desmin myopathy is a class of muscle disorders produced by abnormal desmin and characterised by a disorganisation of the desmin filament network, the accumulation of insoluble desmin-containing aggregates, and destructive changes in the sarcomeric organisation of striated muscles. The clinical phenotypes are heterogeneous, with progressive skeletal myopathy, cardiomyopathy, and respiratory insufficiency as the most prominent features. Most of the desmin mutations are autosomal dominant. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/190618985 / rank | |||||||||||||||
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CID11:ID_190618985 | |||||||||||||||
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dki-india-ID_190618985 | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:58, 15 August 2026
Desmin myopathy is a class of muscle disorders produced by abnormal desmin and characterised by a disorganisation of the desmin filament network, the accumulation of insoluble desmin-containing aggregates, and destructive changes in the sarcomeric organisation of striated muscles. The clinical phenotypes are heterogeneous, with progressive skeletal myopathy, cardiomyopathy, and respiratory insufficiency as the most prominent features. Most of the desmin mutations are autosomal dominant.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_190618985 |
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| English | Desmin myopathy |
Desmin myopathy is a class of muscle disorders produced by abnormal desmin and characterised by a disorganisation of the desmin filament network, the accumulation of insoluble desmin-containing aggregates, and destructive changes in the sarcomeric organisation of striated muscles. The clinical phenotypes are heterogeneous, with progressive skeletal myopathy, cardiomyopathy, and respiratory insufficiency as the most prominent features. Most of the desmin mutations are autosomal dominant. |
Statements
CID11:ID_190618985
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dki-india-ID_190618985
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Concluído
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13 August 2026
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