Histoire des Myopathies (review)

For a century and a half pediatricians, neurologists, geneticists, and others have been intrigued by myopathies, which are somewhat uncommon and complex muscular abnormalities. Here, in paperback, seems to be the first extensive attempt—271 pages—to tackle the origin, development, and controversies surrounding the subject. Not surprisingly, the authors are French, for this was the country where, some 150 years ago, clinical neurology came to life and leadership. The book comprises a fifteen-page introduction, chapters entitled “Neuropathology,” “Distinctions,” “Controversies,” “Recasting,” “Nosology,” “Physiopathology,” and “Genetics,” and a two-and-a-half-page “Conclusion.” All are well researched, well analyzed, and readable. The book also furnishes a number of historical photographs, representing patients and a few microscopic slides. Unfortunately, there is no index.

The earliest electrotherapist and investigator discussed here was Armand Duchenne (“de Boulogne”), who possessed no academic degree but was familiar with Marshall Hall’s “reflex” and the distinction of cerebral from spinal paralysis, as well as with the Bell-Magendie nerve root duplicity. His contribution was to lay the ground for an isolated appraisal and appreciation of idiopathic as opposed to neurogenic muscular dysfunction: myopathy. The authors, far from being chauvinistic, also give credit to German and British forerunners in the research of brain, spinal cord, and peripheral nerve function and dysfunction—as Duchenne had done. The first paper focusing on isolated myogenic dysfunction was written in 1850 by Duchenne’s collaborator Amilcar Aran, giving full credit to his master; in it he stressed the progressive loss of muscle fibers with the intrusion of fatty tissue, and the absence of nerve pathology. Three years later, the great neuropathologist Jean Cruveilhier also published a paper on “progressive atrophic muscular paralysis,” but his patient had atrophy of the anterior spinal nerve roots as well. A genuine British competitor—Edward Meryon—published in 1854 the autopsy of a boy with myopathy and no nervous system anomaly, who had three similarly affected brothers. Meryon’s account was given precedence in England, as Duchenne’s name was somewhat hidden in Aran’s paper of 1850 and his own extensive accounts saw publication only in 1858.

In 1877, four years after Charcot had succeeded Vulpian as chief at the Salpêtrière, he divided “progressive muscular atrophies” into a “protopathic” (Aran-Duchenne) and a “deuteropathic” group. The latter group included meningeal and spinal root lesions, sclérose en plaques (i.e., multiple sclerosis), syringomyelia, tumors, Charcot’s amyotrophic lateral sclerosis, and lead palsy. The term dystrophy is owed to Heinrich W. Erb in Heidelberg, who coined it in 1884 to separate the progressive juvenile muscular pseudohypertrophy from the neurogenic muscle atrophies, while establishing the electrical reaction of “degeneration” (RD). But two months earlier, the authors point out, Louis Théophile Joseph Landoury and Joseph Jules Dejerine had drawn attention to a “progressive hereditary myopathy of childhood starting in the face, without alteration of the nervous system” (p. 146); although already mentioned by Duchenne, it was only superficially akin to the adult form with its mask-like face, only widening but not lifting the mouth when laughing, and total immobility of the upper face. (A similar description had also been given eight years earlier by Leyden and Möbius in Germany.)

From William Richard Gowers in his famous Manual of Diseases of the Nervous System (1888) we get the characteristic patient’s need to support his upper body by his hands on his knees on rising from the ground. Babinski at that time was puzzled, he wrote, by the fact that different muscles were affected in various children. After the turn of the century, Charcot’s successor at the Salpêtrière—Fulgence Raymond—surmised that the various types of myopathy are possibly only clinical variants, examples of the grand chapter of degenerative nervous diseases. At the beginning of the 1960s, Peter Ernst Becker established a relatively benign familial form of Duchenne’s dystrophy, afflicting adolescent males, that allowed them to reach adulthood.

The longest chapters are those on...