Certain specified congenital or developmental myasthenia (Q92773): Difference between revisions
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As síndromes miastênicas congênitas ou de desenvolvimento são um grupo heterogêneo raro de doenças neuromusculares hereditárias caracterizadas por transmissão neuromuscular comprometida. Eles são classificados como pré-sinápticos, sinápticos ou pós-sinápticos, dependendo da localização do defeito primário dentro da junção neuromuscular. Os defeitos genéticos prejudicam a transmissão neuromuscular diretamente ou resultam em deficiências secundárias, que eventualmente comprometem a margem de segurança da transmissão neuromuscular. | |||
| description / en | description / en | ||
Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. | |||
Revision as of 07:54, 16 August 2026
Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1039514197 |
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| English | Certain specified congenital or developmental myasthenia |
Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. |
