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Myotonic Dystrophy
  1. Karen E Morrison

    Statistics from

    3rd ed. Major Problems in Neurology Series. Peter S Harper. (£55.00.) London: Harcourt. 2001. ISBN 0 7020 21520

    As with the second edition of this book, published back in 1989, this third edition is an excellent account of clinical and scientific aspects of myotonic dystrophy. The book is easy to read, sustaining this reviewer’s attention to scan the whole book in a single sitting, while subsequently being of value as a reference for closer consultation on specific clinical and scientific details. As stated in the preface, the book is aimed at “clinicians . . .who encounter myotonic dystrophy in its numerous aspects and who need a broad overview of all the different areas” and “research scientists . . .trying to interpret . . .their work in terms of the broader effects on the disease”. The book is aimed well. “Broad overview”, “broader effects” − myotonic dystrophy involves a variety of clinical systems and presents to a variety of physicians, and the value of this book is in this wide scope, to inform about clinical and scientific areas.

    The book is divided into 14 chapters. All but one of these is written by Peter Harper, thus ensuring continuity of style. The Introduction and Background gives an excellent overview of the disorder, noting the “avoidable catastrophes” that are known to occur in myotonic dystrophy. There follows an excellent chapter on the clinical features of the disease, written by one with immense clinical experience. Advice such as examining for myotonia, even when patients deny its existence, and the sections on social aspects of disability in the disorder are particularly pertinent. The chapter on other myotonic disorders gives a useful overview of the clinical disorder of proximal myotonic myopathy (PROMM), with a useful table comparing the clinical features of this with those of myotonic dystrophy and with helpful clarification on the nomenclature of DM1 and DM2 in relation to the differing phenotypes. There then follows a series of chapters outlining the clinical features resulting from involvement of specific systems, including smooth muscle, the brain, the eye, and the endocrine system. These chapters are a mine of useful information. Figures such as “25% of patients consider their gastrointestinal symptoms to be the most disabling feature of the disorder” stuck with this reviewer. There is a clear table detailing practical recommendations for surgery and anaesthesia in myotonic dystrophy, both pre- and postoperatively. The sections on the complications of pregnancy in the disorder are similarly clearly presented and informative. A separate useful chapter follows on the disorder in infancy and childhood.

    It is not until one is three-quarters of the way through the book that the chapter on the genetic basis of myotonic dystrophy is reached. This is the area in which huge advances in understanding have been made since the last edition of this book. As with the clinical chapters, this is a lucid account of the finding of the unstable CTG repeat sequence in the 3′ untranslated region of the myotonic dystrophy protein kinase gene. This chapter and that following on “Molecular and cell biology of myotonic dystrophy” are concise overviews of the recent molecular biological advances. They cannot be comprehensive, but rather give an excellent grounding for those who want to delve into the more detailed scientific publications.

    And what of the down sides of the book? Criticisms here relate to the publication style rather than the content. The general quality of the illustrations is fairly poor, with all figures and photographs in black and white. There is odd shading in several of the clinical photographs. The reproduction of the CT and MRI images is poor. The histological slides shown would be greatly enhanced if they were in colour. In many places the figures and legends are several pages removed from the appropriate text, making smooth reading awkward. A list of the abbreviations used throughout would be useful. More diagrams in the sections detailing molecular genetic mechanisms would be helpful.

    These “publication” criticisms, however, are minor and stand in stark contrast to the excellent text. Yes, a book is always going to suffer the drawback of delay in time to publication. Advances in the molecular understanding of myotonic dystrophy have continued apace since this volume was published last year, not least with the exciting discovery of CCTG expansions within ZNF9, the DM2 gene, on chromosome 3q21 in August 2001. This does not mean that a volume such as this is obsolete. Far from it. The background, detailed clinical information and, I return to this word again, “broad” overview given in this work, provide an excellent, readable, and retainable account of myotonic dystrophy. I highly recommend this book.

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