Neuromuscular junctional disorders.

Indian Journal of Pediatrics
A S Girija, V V Ashraf

Abstract

Neuromuscular junctional disorders (NMJ) in children are distinct entity. They may be acquired or hereditary. They pose problem in diagnosis because of the higher occurrence of sero negative Myasthenia Gravis (MG) cases in children. The identity of MusK antibody positivity in a good percentage of sero negative cases further adds to problems in diagnosis. The Congenital Myasthenic Syndrome (CMS) which are rare disorders of hereditary neuromuscular transmission (NMT) has to be differentiated because immunotherapy has no benefit in this group. Molecular genetic studies of these diseases helps to identify specific type of CMS which is important as other drugs like Fluoxetine, Quinidine are found to be effective in some. In infancy, all can manifest as floppy infant syndrome. The important key to diagnosis is by detailed electrophysiological studies including repetitive nerve stimulation at slow and high rates and its response to anticholinesterases and estimation of Acetyl choline receptor antibodies. Other causes of neuromuscular transmission defects viz. snake venom poisoning and that due to drugs are discussed.

References

Apr 1, 1992·Journal of Child Neurology·O Papazian
Nov 1, 1990·European Journal of Pediatrics·A P BatocchiP Tonali
Apr 1, 1993·Electroencephalography and Clinical Neurophysiology·F E Somnier, W Trojaborg
Aug 14, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·P MaddisonK R Mills
Mar 15, 2000·Muscle & Nerve·J M Lindstrom
Dec 8, 2004·Postgraduate Medical Journal·B R Thanvi, T C N Lo
Jul 27, 2006·Acta Neurologica Scandinavica·V V AshrafS Rao

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Citations

Jul 27, 2017·Translational Neuroscience·Mohammad A Al-Muhaizea, Sulaiman Bazee Al-Mobarak
Sep 17, 2009·Current Opinion in Neurology

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