Congenital slow channel syndrome (Q92750): Difference between revisions
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Na síndrome do canal lento, um subtipo de síndrome miastênica congênita com defeito pós-sináptico, há um envolvimento grave e seletivo dos músculos extensores cervicais, do punho e dos dedos na maioria dos casos. Músculos cranianos são ligeiramente afetados; curso lentamente progressivo. Piorado pela terapia com piridostigmina de longo prazo; pouca ou nenhuma resposta ao edrofônio. Herança autossômica dominante em quase todos os casos._x000D_ _x000D_ A estimulação nervosa repetitiva mostra decremento e potenciais de ação muscular compostos repetitivos. | |||
| description / en | description / en | ||
In slow channel syndrome, a congenital myasthenic syndrome subtype with a postsynaptic defect, there is selectively severe involvement of cervical and wrist and finger extensor muscles in most cases. Cranial muscles only mildly affected; slowly progressive course. Worsened by long-term pyridostigmine therapy; little or no response to edrophonium. Dominant inheritance in nearly all cases. Repetitive nerve stimulation shows decrement and repetitive compound muscle action potentials. | |||
Revision as of 07:52, 16 August 2026
In slow channel syndrome, a congenital myasthenic syndrome subtype with a postsynaptic defect, there is selectively severe involvement of cervical and wrist and finger extensor muscles in most cases. Cranial muscles only mildly affected; slowly progressive course. Worsened by long-term pyridostigmine therapy; little or no response to edrophonium. Dominant inheritance in nearly all cases. Repetitive nerve stimulation shows decrement and repetitive compound muscle action potentials.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_339968706 |
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| English | Congenital slow channel syndrome |
In slow channel syndrome, a congenital myasthenic syndrome subtype with a postsynaptic defect, there is selectively severe involvement of cervical and wrist and finger extensor muscles in most cases. Cranial muscles only mildly affected; slowly progressive course. Worsened by long-term pyridostigmine therapy; little or no response to edrophonium. Dominant inheritance in nearly all cases. Repetitive nerve stimulation shows decrement and repetitive compound muscle action potentials. |
