Book Review

The History of a Genetic Disease: Duchenne muscular dystrophy or Meryon's disease

N Engl J Med 1997; 337:207July 17, 1997

Article

The History of a Genetic Disease: Duchenne muscular dystrophy or Meryon's disease
By Alan E.H. Emery and Marcia L.H. Emery. 248 pp., illustrated. London, Royal Society of Medicine Press, 1995. $35. ISBN: 1-85315-249-3

Duchenne's muscular dystrophy is one of the most common and devastating inherited conditions, and the elucidation of its underlying cause is often cited as the first jewel in the crown of human molecular genetics. Today, studying DNA from patients to uncover the primary defect in a disease is routine, and hundreds of disease genes have been identified. The current frenzied activity in research on the human genome and disease genetics can be overwhelming, and this book by the renowned Emerys offers a respite from the fray as it systematically traverses the medical history of Duchenne's muscular dystrophy.

The authors quickly establish a rhythm in their writing and organization of material, and the reader is easily absorbed in the book. They have clearly devoted considerable time, effort, and travel to excavating the work of the physicians and scientists who contributed to our current understanding of muscular dystrophy. But the authors are careful not to present the information as dry facts. On the contrary, each contribution is placed in a historical context, with regard to prevailing social and cultural norms, and with an emphasis on short biographies of the contributors.

As is evident from the title, the thesis of the book is that a British physician, Edward Meryon, made the seminal descriptions of the muscular dystrophy that bears the name of his French contemporary, Duchenne. The evidence in support of this thesis is relatively compelling, as the authors summarize it:

However Duchenne was not able to satisfy himself that the spinal cord was normal in the disease, he failed to note the breakdown of the sarcolemma, which we now know is important in pathogenesis, and did not emphasize the familial nature of the disease, all aspects of the disease which Meryon addressed and emphasized in the cases he studied. But Meryon made few other original contributions to medical neurology, whereas Duchenne is remembered for a variety of significant contributions to the field.

Although such delicate (and often subjective) topics as precedence are generally dealt with fairly and objectively, some strong hints of British nationalism peek through the pages. A nice example is the following statement about the balanced nature of British citizens as compared with the rest of the world: ``Meryon on the other hand was more in the mould of the English physician who, having made an inspired and thoughtful study of a disease, allowed his other professional and family interests thereafter to occupy his attention.''

This valuable history also teaches the reader about many of the salient, albeit often complicated, aspects of this important disease. Duchenne's dystrophy is put in context with other muscular dystrophies, and the march through the genetics and biochemistry of the disorder is clearly described. An effort is made to show the influence of advances in knowledge on pragmatic issues, such as diagnosis and genetic counseling.

This book is a good read for anyone interested in the history of medical science and also for the many persons who know or provide care for those with this terrible disease.

Eric P. Hoffman, Ph.D.
University of Pittsburgh School of Medicine, Pittsburgh, PA 15260