Walsh & Hoyt: Postsynaptic Congenital Myasthenic Syndromes

In patients with a congenital deficiency of acetylcholinesterase, weakness, atrophy, fatigability, ptosis, and ophthalmoparesis are usually recognized in the first 2 years of life. Autosomal-recessive inheritance is the rule. In most patients, pupillary light responses are abnormally slow. Primary acetylcholine receptor deficiency. Primary acetylcholine receptor kinetic abnormality. Fast-channel syndrome. Slow-channel syndrome.