Neuromuscular Disorders in Children

Deconinck N, Goemans N, eds. Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management. London, UK: Mac Keith Press; 2019 (452 pages), ISBN: 978–1–911612–08–7 £ ca. 102

In recent years, both diagnostic and therapeutic strategies for neuromuscular diseases have changed dramatically. Until recently, neuromuscular diseases were perceived exclusively as fateful and uninfluenceable. New therapeutic developments, predominantly based on molecular techniques, give rise to the hope that children with neuromuscular disorders will have a significantly better perspective than before. Even if these cause-oriented therapies are currently only available for a limited number of diseases, advances of symptomatic treatment help to improve the quality of life and the life expectancy of most of the neuromuscular patients.

The aim of this book is to present the current therapeutic knowledge about neuromuscular diseases in children in a comprehensive and up-to-date way to guide the decisions in everyday clinical life. The authors are internationally renowned experts in the neuromuscular field with many years of experience in diagnostics and treatment.

The book contains 30 chapters that cover nearly all aspects of neuromuscular disorders from the diagnostic approach to supportive care. Despite the fact that many authors have contributed to the book, the topic is presented to the reader in a very homogeneous format. Short summaries at the end of each chapter help the reader to memorize the most important things. Some tables would have been useful for a quick information.

In the first part of the book, the disease burden and the coping strategies are presented from the point of view of the patients and their parents. There is a vast discussion about the methodology of guidelines with links to the existing disease-specific consensus papers.

In the second section, the basics of history taking, clinical examination as well as the available instruments for the exact documentation of the course of the disease are presented in great detail. Some tables would have been useful for the reader; nevertheless, there is a lot of useful clinical information included in the text.

This part is followed by a section in which the most important diseases like Duchenne muscular dystrophy, spinal muscular atrophy, myasthenia gravis and myasthenic syndromes as well as neuropathies, to give only a few examples, are described in detail. In all chapters, the diagnostic possibilities are presented critically and underpinned by the available literature as well as the current state of therapeutic possibilities. New therapies and established approaches, that are still under investigation, are discussed. This part gives the reader a comprehensive up-to-date overview. The subchapters clearly show that the respective authors have profound practical experience and are therefore able to critically classify the literature presented.

Another large section is devoted to the various aspects of symptomatic treatment. It covers the whole spectrum from the cardiac manifestation to respiratory and orthopedic problems. Here, as in the previous chapters, the symptomatic strategies as well as the criteria to come to a decision are provided, together with a very comprehensive presentation of the existing studies.

In the concluding chapter, psychosocial problems and the resulting need for care are discussed. Even the aspect of sexuality in neuromuscular diseases, which is not mentioned in most textbooks, is discussed.

In view of the wealth of information that is presented it is difficult to work out the critical points. The only aspect that is unfortunately missing is the discussion about the various aspects of anesthesia in neuromuscular diseases. Perhaps this chapter can be included in the future edition.

Altogether an excellent book, which can be warmly recommended to all pediatric neurologists with interest in neuromuscular disorders.