Congenital myasthenic syndromes can result from which of the following abnormalities?
Correct Answer: all of the above
Description: The congenital myasthenic syndromes (CMS) comprise a rare heterogeneous group of disorders of the NMJ that are not autoimmune but rather are due to genetic mutations in which viually any component of the NMJ may be affected. Alterations in function of the presynaptic nerve terminal, in the various subunits of the AChR, AChE, or the other molecules involved in end-plate development or maintenance, have been identified in the different forms of CMS. These disorders share many of the clinical features of autoimmune MG, including weakness and fatigability of proximal or distal extremity muscles, and often involving EOMs and the eyelids similar to the distribution in autoimmune MG. CMS should be suspected when symptoms of myasthenia have begun in infancy or childhood, but they can present in early adulthood. As in acquired autoimmune MG, repetitive nerve stimulation is associated with a decremental response Ref Harrison 20th edition page3235, 3236 (table-440-2)
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