Myasthenia gravis congenital

Fast-channel syndrome. The clinical features resemble those of autoimmune myasthenia gravis (see below) with variable severity. Conversely to what is found in slow-channel syndrome, the open state of the AChR is destabilized, manifesting as fast dissociation of ACh from the receptor and/or excessively reduced open times. One mutation has also caused multiple congenital joint contractures owing to fetal hypomotility in utero. In most cases, the mutant allele causing the kinetic abnormality... 

Although we have discussed briefly the implications of biochemical individuality for alcoholism, for gout, and for arthritis, these are merely examples. A host of other diseases need to be attacked with the same point of view and hold the same promise of success. These include multiple sclerosis, muscular dystrophy, myasthenia gravis, atherosclerosis, essential hypertension, ulcers, diabetes, epilepsy, rheumatic heart disease, nephrosis, liver cirrhosis, congenital heart disease (as well as a host of other malformations which probably involve nutritional deficiencies during fetal life) and even infective diseases such as tuberculosis or poliomyelitis. 

A fine tremor occurred when isoflurane was used in the management of a 3-year-old boy with pneumonia and underlying congenital myasthenia gravis (8). 

McBeth C, Watkins TG. Isoflurane for sedation in a case of congenital myasthenia gravis. Br J Anaesth 1996 77(5) 672-4. 

Myasthenia gravis Lambert-Ealon myasthenic syndrome Disorder Botulinum toxin poisoning Intermediate syndrome Congenital ACItC defleieney... 

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