Biochemical Aspects of Muscle Disease

TLDR: Although numerous changes in the chemical constituents of blood and urine have been observed in patients with muscle diseases, the biochemical abnormalities can be adequately studied only by a direct investigation of the diseased muscle.

Abstract: Publisher Summary Voluntary muscle disease can result from a variety of causes. Muscle diseases can be divided and subdivided according to their etiology. Many are very rare and have not yet been the subject of biochemical investigations. The major biochemical efforts have been directed toward the genetically determined myopathies, especially the muscular dystrophies and, to a lesser degree, the myotonic disorders and some of the more common muscle disorders of established neurogenic origin. Although numerous changes in the chemical constituents of blood and urine have been observed in patients with muscle diseases, the biochemical abnormalities can be adequately studied only by a direct investigation of the diseased muscle. It is difficult to procure a sufficient number of samples of biopsied muscle from patients. The tissue donated is often from relatively advanced cases, where the degree of muscular degeneration is so extreme as to mask the earlier and more meaningful changes. The recognition of Duchenne type muscular dystrophy in the very early stages by serum enzyme changes is of some help in this respect, but the provision of adequate quantities of suitable muscle is still a difficulty.