Moderate multi-minicore disease with hand involvement (Q104021): Difference between revisions
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Miopatia congênita caracterizada pela presença na maioria das fibras musculares de múltiplos minicores, que são mal circunscritos, lesões segmentares que espalham apenas alguns sarcômeros ao longo do eixo longitudinal da fibra e afetam tanto as fibras do tipo 1 quanto as do tipo 2. A forma moderada com envolvimento das mãos consiste em fraqueza muscular generalizada predominando na cintura pélvica e incluindo fraqueza nas mãos, amiotrofia e hiperfrouxidão; a escoliose e o envolvimento respiratório são leves ou ausentes. | |||
| description / en | description / en | ||
Congenital myopathy characterised by the presence in most muscle fibres of multiple minicores, which are poorly circumscribed, segmentary lesions spreading only a few sarcomeres along the fibre longitudinal axis and affecting both type 1 and type 2 fibres. The moderate form with hand involvement consists of generalised muscle weakness predominating in the pelvic girdle and including hand weakness, amyotrophy, and hyperlaxity; scoliosis and respiratory involvement are mild or absent. | |||
Revision as of 09:50, 17 August 2026
Congenital myopathy characterised by the presence in most muscle fibres of multiple minicores, which are poorly circumscribed, segmentary lesions spreading only a few sarcomeres along the fibre longitudinal axis and affecting both type 1 and type 2 fibres. The moderate form with hand involvement consists of generalised muscle weakness predominating in the pelvic girdle and including hand weakness, amyotrophy, and hyperlaxity; scoliosis and respiratory involvement are mild or absent.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1297824145 |
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| English | Moderate multi-minicore disease with hand involvement |
Congenital myopathy characterised by the presence in most muscle fibres of multiple minicores, which are poorly circumscribed, segmentary lesions spreading only a few sarcomeres along the fibre longitudinal axis and affecting both type 1 and type 2 fibres. The moderate form with hand involvement consists of generalised muscle weakness predominating in the pelvic girdle and including hand weakness, amyotrophy, and hyperlaxity; scoliosis and respiratory involvement are mild or absent. |
