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Edited by G Karpati, D Hilton-Jones, and R C Griggs (Pp 775, £140.00). Published by Cambridge University Press, Cambridge, 2001. ISBN 0-521-65062-3
It is estimated that at least one in 500 people will be affected by specific genetic or other lifelong neuromuscular disorders. Inevitably this figure is likely to be a significant underestimate because of inadequate case ascertainment, as well as our limited ability to identify what is likely to be another large number of as yet unrecognised muscle disorders. Into the latter group may fall patients who complain of muscle weakness, fatigue, or aching in whom no specific abnormality can yet be identified. Thus, muscle diseases constitute an important area of clinical activity and such patients are seen by neurologists, rheumatologists, general physicians, and a variety of other specialists. Thus, an up to date, comprehensive, and accessible textbook is extremely valuable for the generalist, as well as for those with a specific interest in muscle disorders.
This book has become a standard text for myologists and neurologists alike ever since its first publication in 1964. It has been through several editions and this most recent one has been supervised by three leading myologists. It is divided into four sections covering the scientific basis of muscle disease, methods of investigation, clinical features of muscle disorders, and, finally, the principles for their management. This therefore provides a comprehensive review of the foundations of neuromuscular diseases. The list of contributing authors is impressive. There are several outstanding contributions. I will mention only a few of these.
Skeletal muscle biochemistry is often an area where even myologists begin to feel uncertain. There have been several important recent advances in this area, particularly in understanding the relation between biochemical defects and clinical manifestations. The section on skeletal muscle biochemistry by John Land is exceptional and provides a clear and succinct view of the important areas of skeletal muscle chemistry, including the effects of exercise and training. This section complements the chapter on metabolic myopathies, which provides a detailed account of muscle biochemistry and how it may result in human disease. Inevitably some of the sections are brief but this is balanced by a good range of references. The two sections taken together should prove a significant help to those having to deal with patients who present with metabolic abnormalities of muscle.
The morphological examination of muscle disease lies at the centre of the evaluation of patients with myopathies. The section by Sewry and Dubowitz provides an excellent background review of this area, as well as a comprehensive analysis of morphological abnormalities in muscle disease. Inevitably the contribution has had to be condensed but this section should provide a rapid and easy guide to those who may not necessarily be experts in muscle morphology.
The clinical evaluation of the patient with symptoms of muscle disease is critical to achieving an accurate diagnosis. Generally, diseases of muscle have only a limited range of clinical expression and it is often the subtle features that give a guide to diagnosis or an appropriate plan of investigation. Muscle pain is probably one of the most frequent complaints and, as intimated above, investigation of many of these patients is negative, although this does not, of course, exclude their having an underlying muscle disorder. A careful approach to patients with myalgia is critical. Thus, it is helpful for this topic to have been covered in some detail in this section. Moreover, the painful muscle syndromes are specifically covered by Lane, and this detailed analysis of the various causes of this symptom is also particularly helpful.
Several of the dystrophies, congenital myopathies, and, of course, the inflammatory myopathies are covered in some detail, each in separate sections. These are, generally speaking, up to date and provide, in particular, a good account of the recent advances in the molecular genetics, particularly of the dystrophies. The section on mitochondrial disorders is also comprehensive and provides a useful algorithm for assessment of patients with possible mitochondrial disease. It is the section on the inflammatory myopathies that will probably be most used by generalists, including both neurologists and rheumatologists. The section written by Dalakas and Karpati is excellent and provides a comprehensive overview of the clinical, morphological, aetiological, and therapeutic aspects of these disorders. In particular, the discussion of the involvement of muscle in other inflammatory disorders is helpful. My only suggestion might have been an algorithm to help guide clinicians in the treatment of these disorders.
Genetic counselling in muscle diseases has now become a critically important area. Therefore, the chapter by Bushby is very welcome. This sets out clearly the approach that clinicians should take to achieving a diagnosis and to counselling patients and relatives with the various types of inherited muscle disease. I imagine that this section in particular will find its way in some easily accessible form into the clinic drawer.
Finally, the last chapter deals with practical management issues in patients with muscle disease. This is clearly a very important area for patients who sadly often progress inexorably and require an increasing degree of help from carers and the medical profession as each year passes. This is one of the most important areas for managing patients with muscle disease and it is pleasing that this has been covered in some detail.
Where do the faults lie? In reality, none of my criticisms are anything but quibbles. Some of the sections seem a little superficial but inevitably this must reflect the constraint of chapter size in what must be intended to be a single volume text. There are of course other texts with which this will have to compete. Both Myology by Engel and Franzini-Armstrong and Neuromuscular disorders by Katirji et al are also excellent texts covering a similar range of topics. Needless to say, these are all pretty hefty tomes and the reader will have to select which of these suits him or her best. The latest Disorders of voluntary muscle must rank alongside the other top texts in this area.