Statistics from Altmetric.com
This book describes in detail the clinical features and latest research findings on congenital muscular dystrophy. The book follows on from an International Symposium on Congenital Muscular Dystrophies which was held in Tokyo in July 1994. The book has many positive features but also some less good features, so common in edited multiauthor texts.
On the positive side, the book gives a very comprehensive and authoritative review of the clinical features of the various types of congenital muscular dystrophies. I particularly enjoyed reading (and learning) about the different clinical phenotypes from clinicians who clearly have seen many cases. The fascinating association of the muscular dystrophy with CNS abnormalities both clinical and radiological, are well described.
The chapters describing the morphological features in both muscle and brain are also comprehensive and helpful to those trying to establish a diagnosis. There is also an interesting chapter on the clinical management of patients, so important for those incurable diseases.
Where have the major advances in this area been. As with other muscular dystrophies, progress has been made by the finding of an absence of a structural protein, in this case merosin, in a subgroup of patients. The most common form of congenital muscular dystrophy in Japan, Fukuyarna congenital muscular dystrophy, has been mapped to a specific chromosomal location and surely the defective gene will be identified. Finally, on the positive side, there is a comprehensive bibliography which was updated to March 1997—helpful for those wishing to know more.
On the negative side is a feature I find concerning with many multiauthor books. Some chapters are repetitive, giving only a slightly different slant on the same problem. Also, towards the end of the book the chapters on pathogenesis I found less interesting than the chapters which tried to pull the clinical and pathological features together.
Who should buy this book? Well, it is a must for all paediatric neurologists who have an interest in neuromuscular disease, or aspiring to have an interest. For those with a general neurological interest it will be important to have access to a copy. It will also be helpful for adult neurologists, such as myself, who get a mental block at those clinical meetings where you are expected to remember the 85 varieties of floppiness. Be warned, I am now an expert and can confidently diagnose a case of Fukuyama muscular dystrophy; shame that they are only seen in Japan!
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.