Duchenne Muscular Dystrophy (4th Edition)

Authors: Alan Emery, Francesco Muntoni and Rosaline Quinlivan

Oxford University Press; ISBN 978-0-19-968148-8

 

 

It has been a pleasure to review Duchenne Muscular Dystrophy (4th edition, Oxford University press) by Drs Emery, Muntoni and Quinlivan, who are well-recognised experts in the field of muscular dystrophy and have published widely about this subject. Writing a book on Duchenne Muscular dystrophy is a challenge, as not only is there a constant plethora of new information regarding the pathophysiology and natural history of this unfortunate disorder, but there are increasing number of on-going clinical and pre-clinical trials across the world. Whilst these advances have made it possible for the first treatment for human to be licensed for use since 2014, it poses a unique risk that any published material on this subject can rapidly become out of date!

 

Despite this, the authors have successfully managed to produced what is undoubtedly a comprehensive book on Duchenne Muscular Dystrophy (DMD). The book begins with a historical review highlighting the milestones in our understanding of DMD and key clinicians who have contributed towards this. It goes on the describe the distinctive, but sadly yet under-recognised, clinical features of DMD with important differential diagnoses to consider. The authors’ knowledge and expertise of the disorder is most evident in the detailed chapters on the genetics (chapter 8) and molecular pathology (chapter 9), which is very informative. The book highlights the diverse role and possible pathogenic mechanisms of dystrophin deficiency in humans (chapter 10). The chapter on management of DMD with physical therapy and orthoses will be of extreme interest to the physical therapists as well as trainee doctors as will the outcome measure scales in the appendices.

 

The book has been written in an authoritative but slightly languid style with basic science diagrams, useful tables and clinical photographs, which would have been even more exciting in colour. I can visualize this book being used by a wide variety of professionals including medical students, junior doctors, general physicians, neuromuscular physicians and physical therapists. I would certainly have no hesitation in adding this book to my own departmental library as a reference book for DMD.

 

 

Dr Gautam Ambegaonkar MBBS DCH MRCPCH

Lead for Paediatric Neuromuscular Services

Addenbrookes Hospital and East of England

Box 107 Addenbrookes Hospital

Hills Road Cambridge CB2 0QQ

Tel: 0044 1223 274250

E-mail: gautam.ambegaonkar@nhs.net