Congenital slow channel syndrome (Q92750): Difference between revisions

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15 August 2026
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Latest 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.
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ID_339968706
    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.

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      CID11:ID_339968706
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      dki-india-ID_339968706
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      Concluído
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      15 August 2026
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