How Not to Miss Congenital Myasthenic Syndromes in Adults

Congenital myasthenic syndromes that were eventually diagnosed in adulthood had been missed for decades in 94% of patients; clues to diagnosis are presented here.

Myasthenia gravis (MG) exemplifies the Scottish proverb, “There's many a slip twixt the cup and the lip.” For the neuromuscular junction (NMJct) to function properly requires that a remarkable collection of properly organized pre- and postsynaptic proteins appropriately deliver the neurotransmitter acetylcholine (ACh) from the motor nerve to the muscle's ACh receptor. Since the discovery in the 1970s of antibodies to AChR — and more recently to MuSK or (rarely) lrp-4 or agrin — autoimmune MG is readily recognized. However, genetic defects in components of the NMJct can cause congenital myasthenic syndromes (CMS) that are more difficult to identify, especially in adults. The authors studied 34 patients diagnosed with CMS as adults, 15 of who…

Reviewing Author

Daniel B. Drachman, MD

How Not to Miss Congenital Myasthenic Syndromes in Adults

Topics

Reviewing Author