Brain, Vol. 122, No. 4, 790,
April 1999
© 1999 Oxford University Press
Book Reviews |
NEUROMUSCULAR DISORDERS: CLINICAL AND MOLECULAR GENETICS.
Edited by Alan E. H. Emery. 1998. Pp. 563. Chichester: John Wiley and Sons Limited. Price £75.00. ISBN 0-471-9781-75..
The Walton Centre For Neurology and Neurosurgery, Liverpool, UK
Inherited neuromuscular disorders, as a group, are relatively common and have a prevalence of about one in 3000, representing a significant burden of chronic neurologic disability. Some, such as HMSN (hereditary motor and sensory neuropathy) and myotonic dystrophy with a prevalence of 1 : 2500 and 1 : 8500 respectively, are common clinical conditions seen by almost all clinical neurologists. Many of these disorders were described in the nineteenth century, or earlier, and many were recognized as inherited conditions. In the last three or four decades advances in nerve and muscle pathology and in clinical neurophysiology have given substantial insights into the pathophysiology and classification of these disorders.
Disease gene localization in neuromuscular disorders began in the 1980s with the identification of the Duchenne muscular dystrophy (DMD) gene (1985) and the gene product, dystrophin, two years later. Dystrophin comprises 0.002% of the striated muscle protein and it is highly unlikely that the nature of DMD would ever have been established by any conventional technique. The area of gene characterization has obviously exploded and the fact that Table 1.1, in the editor's excellent introductory chapter which summarizes known genetic defects in neuromuscular disorders, runs for five pages is testimony to scientific advance in this field.
This book consists of 21 chapters written by 44 authors, most of whom have contributed to the European Neuromuscular Centre (ENMC) international workshops, aimed at summarizing and facilitating research into these conditions under the able and enthusiastic leadership of the ENMC Research Director, Professor Emery. Most have made substantial research contributions to the disorders they describe. The ENMC will be familiar to many for its production of the two editions of Diagnostic Criteria for Neuromuscular Disorders. Neuromuscular Disorders: Clinical and Molecular Genetics is exceptionally well-referenced with most chapters including papers published in 1997.
The chapters cover the full spectrum of inherited neuromuscular disorders: myopathies, ion channel disorders, congenital myasthenia, spinal muscular atrophies and hereditary neuropathies. The balance, in terms of chapter length, is uneven. For example, fibrodysplasia ossificans progressiva earns 34 pages, more than the space given to Duchenne/Becker, facioscapulohumeral muscular dystrophy (FSHD) or limb–girdle muscular dystrophies (LGMD). The chapter on post-polio dysfunction is an odd man out: there is conflicting evidence as to whether this has a primary neurological basis or is secondary to other (e.g. orthopaedic) factors and the case for it having a genetic basis is unproven. The balance is also uneven in terms of chapter content, largely reflecting the experience and clinical (or otherwise) practice of the authors.
In general, the chapters on myopathies are excellent (as expected with authors such as Tomé, Fardeau and Padberg). These give useful and important clinical and case management information as well as clear, comprehensive and up-to-date summaries of the molecular genetics. The chapter on Duchenne and Becker dystrophies is one of the best available summaries of this large field. The LGMD constitute an area of substantial recent advance and this chapter is, again, a strong and comprehensive summary. Nevertheless, at least in adult practice, it is only in a minority of cases where a specific (molecular) diagnosis can be made and `routine' immunohistochemistry for described LGMD defects is expensive and time-consuming in any neuropathology laboratory.
Articles on the mitochondrial disorders are apt to get out of control but Poulton's succinct chapter is an antidote to this (and is also very readable), although no attempt is made to cover clinical aspects. Chapters on myotonic dystrophy and muscle ion channel disorders are comprehensive and the entry on familial amyotrophic lateral sclerosis (ALS) and related disorders is also outstanding.
Melki's chapter on spinal muscular atrophy (SMA) summarizes SMA types I–III but has little clinical content and hardly mentions adult-onset SMA. The latter group of disorders is covered to some extent in the chapter entitled `Hereditary neuropathies', where they are classified as proximal and distal hereditary motor neuropathy (HMN) forms or spinal Charot–Marie–Tooth (CMT). This mixed terminology is unhelpful and at least an acknowledgement to the anterior horn cell could be made by using the term `neuronopathy' rather than neuropathy. Although the molecular genetics is described, the clinical information is weak and I found this chapter rather disappointing, particularly in view of the relative high prevalence of HMSN.
In general, this book can be strongly recommended to anyone dealing with neuromuscular disorders. It is certainly good value at £75.00. It is not a genetics guide or a clinical textbook on neuromuscular disorders but is generally very well written and is an excellent summary of available scientific information about this important group of chronic and disabling disorders.
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