Neuromuscular disease

On review of all cases of PM/DM in any large center for the investigation of neuromuscular diseases, an incidence of associated malignancy varying from about 7% to over 20% is to be expected. In contrast to PM/DM alone where the male female ratio is about 1 2, approximately equal involvement of the sexes is seen in PM/DM with malignancy. In patients over 40 years of age the association with DM greatly exceeds that with PM. 

Barwick, D., Fawcett, P.R. W. (1988). The clinical physiology of neuromuscular disease. In Disorders of Voluntary Muscle (Walton, J.N., ed.), pp. 1015-1080, Churchill-Livingstone. Edinburgh. 

Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle Nerve 2000 23[6] 843—850. 

An extensive variety of neuromuscular diseases have been uncovered as congenital conditions involving not only the nAChR and AChE but also proteins that control their expression and synaptic localization. These are discussed in Ch. 43. Study of the underlying genotype or sequence differences has also proved helpful in unraveling the involvement of various amino acid residue determinants in function [41]. 

Goodgold J, Eberstein A. 1983. Motor and sensory nerve conduction measurements. In Electrodiagnosis of neuromuscular diseases. 3rd ed. Baltimore, MD Williams and Wilkins, 104-153. 

Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked, allelic, neuromuscular diseases. DMD/BMD are characterized by progressive muscular weakness and degeneration of skeletal muscle. DMD is the most common recessive lethal disease, with an incidence of approximately 1 in 3500 newborns, and according to estimates, one-third of the cases are linked with new mutations (M3). Clinical symptoms of the disease appear earlier, by 2 to 3 years of age, in the form of retarded motor development. Progressive symptomatic children show weakness and wasting of muscle and are usually wheelchair bound approximately by the age of 11-12 years. It has been reported that most patients die at about the age of 20 due to pneumonia, which is related to chronic respiratory insufficiency. BMD—being the rarer allelic disorder—has a milder clinical course with slower disease progression. The BMD-affected patients usually survive beyond the age of 30. 

Although normally present in normal human plasma in abundance ( 0.6 mg/ml, 10 pM) (27-30), concentrations ofhemopexin are sensitive to a variety of pathological conditions. Decreased levels have been noted in chronic and severe hemolytic states (31) and in heme infusion of acute intermittent porphyria patients (32). On the other hand, hemopexin levels increase in the acute-phase response (33-36), and hemopexin has been designated as a type II acute-phase reactant. Plasma hemopexin also increases in certain conditions of muscle breakdown and neuromuscular disease (37). 

Professor of Neurology at the Keck School of Medicine, USC. Clinical Professor of Neurology, David Geffen School of Medicine, UCLA. Director of Neuromuscular Disease, VA Greater Los Angeles Olive View UCLA Medical Center, 16111 Plummer Street, Sepulveda, California 91343. 

Accuracy reduced in muscle wasting diseases (e.g., neuromuscular disease) and amputees... 

Patients with burns, nerve damage or neuromuscular disease, closed head injury, and other trauma can respond to succinylcholine by releasing potassium into the blood, which, on rare occasions, results in cardiac arrest. 

Emery, A. E. (1991). Population frequencies of inherited neuromuscular diseases - A world survey. Neuromuscul. Disord. 1, 19-29. 

Patients with burns, nerve damage or neuromuscular disease, closed head injury, and other trauma can respond to succinylcholine by an exaggerated release of potassium into the blood, occasionally resulting in cardiac arrest. As a result of the cardiac arrests (presumably caused by hyperkalemia), the Food and Drug Administration recommended in 1993 that succinylcholine no longer be used in children. However, this highly controversial contraindication was subsequently modified to a simple warning because no acceptable alternative to succinylcholine was available for rapid-sequence inductions. 

Mouse Strains Used for Neuromuscular Disease Research... 

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