Antenatal multi-minicore disease with arthrogryposis multiplex congenital (Q104027): Difference between revisions
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Miopatia congênita infrequente caracterizada pelo início pré-natal de artrogripose das extremidades distais ou cintura do membro. Multi-minicore são definidos por mudanças estruturais na microscopia óptica e eletrônica, ou seja, várias pequenas áreas sem atividade enzimática oxidativa e desorganização focal de proteínas contráteis envolvendo no máximo alguns sarcômeros. A forma clássica da doença se manifesta por hipotonia mais ou menos grave e fraqueza generalizada com predomínio na musculatura axial e proximal dos membros. | |||
| description / en | description / en | ||
Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles. | |||
Revision as of 09:51, 17 August 2026
Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2136141208 |
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| English | Antenatal multi-minicore disease with arthrogryposis multiplex congenital |
Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles. |
