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Congenital myasthenia gravis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Congenital myasthenia gravis usually presents at or close to birth. There are no immunological abnormalities and anti-ACh receptor antibodies are not detectable. It is heterogenous and embraces the following syndromes:

  • familial infantile myasthenia - autosomal recessive disease characterised by a pre-synaptic abnormality in acetylcholine synthesis or transport into synaptic vesicles, and a defect in acetylcholine resynthesis by choline acetyltransferase.

  • a sex linked or autosomally recessive condition with an inherited deficiency of acetyl cholinesterase

  • 'slow channel' syndrome in which the acetylcholine receptor ion-channel closes slowly. This prolongs the duration of the end plate potential and permits calcium to accumulate in the post-synaptic region

  • congenital acetylcholine receptor deficiency with extremely simplified end plate anatomy

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