Restrictive cardiomyopathy due to desminopathy (Q96350): Difference between revisions
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Cardiomiopatia restritiva devida à desminopatia é uma cardiomiopatia restritiva devida ao transtorno do filamento intermediário associado a mutações nas proteínas proteínas que interagem estreitamente, desmina e alfaB-cristalina._x000D_ _x000D_ Informações adicionais. O padrão de herança pode ser autossômico dominante, autossômico recessivo ou esporádico. Tipicamente, a doença se apresenta com fraqueza muscular de membros inferiores e superiores que se espalha lentamente para envolver os músculos tronculares, flexores do pescoço, faciais e bulbares, bem como cardiomiopatia e arritmias. | |||
| description / en | description / en | ||
Restrictive cardiomyopathy due to desminopathy is a restrictive cardiomyopathy due to the intermediate filament disorder associated with mutations in the closely interacting proteins, desmin and alphaB-crystallin. Additional information. The inheritance pattern may be autosomal dominant, autosomal recessive or sporadic. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulbar muscles, as well as cardiomyopathy and arrhythmias. | |||
Revision as of 12:18, 16 August 2026
Restrictive cardiomyopathy due to desminopathy is a restrictive cardiomyopathy due to the intermediate filament disorder associated with mutations in the closely interacting proteins, desmin and alphaB-crystallin. Additional information. The inheritance pattern may be autosomal dominant, autosomal recessive or sporadic. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulbar muscles, as well as cardiomyopathy and arrhythmias.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1183131753 |
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| English | Restrictive cardiomyopathy due to desminopathy |
Restrictive cardiomyopathy due to desminopathy is a restrictive cardiomyopathy due to the intermediate filament disorder associated with mutations in the closely interacting proteins, desmin and alphaB-crystallin. Additional information. The inheritance pattern may be autosomal dominant, autosomal recessive or sporadic. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial and bulbar muscles, as well as cardiomyopathy and arrhythmias. |
