Emergencies in Neuromuscular Disorders

460 Pages·2022·8.922 MB·English

by  Maxwell Damian, Marianne de Visser

Emergencies in
Neuromuscular
Disorders
Maxwell Damian
Marianne de Visser
Editors
123
Emergencies in Neuromuscular Disorders
Maxwell Damian • Marianne de Visser
Editors
Emergencies
in Neuromuscular Disorders
Editors
Maxwell Damian Marianne de Visser
Cambridge University Hospitals Department of Neurology
Cambridge, UK Amsterdam University Medical
Centres, location Academic Medical Center
Amsterdam, the Netherlands
ISBN 978-3-030-91931-3 ISBN 978-3-030-91932-0 (eBook)
https://doi.org/10.1007/978-3-030-91932-0
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Foreword
The birth of respiratory intensive care units (ICUs) is tightly connected with the
history of a pandemic neuromuscular disorder (NMD): poliomyelitis. As a child I
remember the “whispering” of my parents, and later seeing pictures in newspapers,
about “iron lung.” Reading much later about the Copenhagen polio crisis in the
1950s when young students were recruited to continuously help with manual venti-
lation using rubber bags reminded me how as a medical student during war-time
related electrical stoppage, I had to “replace” for hours the old Bennett respirator
with a similar type of air bag. We have all seen the major advance in the respiratory
emergency care for all patients in the seven decades since that global polio epi-
demic. By 2020, the modern respiratory and emergency care system came again
under stress with yet another infection—the SARS-CoV-2 pandemic. Patients with
various NMDs were at special risk because of their basic muscle weakness (and at
time their immunesuppressant therapy). Thus, a book about the unique emergencies
in NMDs patients seems very timely.
Emergency situations in NMDs are related to acute dysfunction of one or more
of the three organs: muscle, heart, and kidney. Acute generalized weakness of skel-
etal (voluntary) and respiratory muscles can lead to quadriplegia and generalized
hypoxia. Cardiac failure and conduction defects are also known features of some
hereditary and acquired myopathies. Rapid rhabdomyolysis is a major risk for renal
function. Such situations may complicate various NMDs or even be their presenting
feature. Thus, early recognition and prevention combined with urgent treatment,
usually in an ICU, is of utmost importance.
Drs Maxwell Damian and Marianne de Visser have edited this very important
book which is filling a needed gap in the comprehensive treatment of myopathies,
neuromuscular junction disorders, neuropathies, and motor neuron disorders. Dr.
Damian is a very active neurological consultant and ICU physician from Cambridge
(UK), who specializes in emergency treatments of NMDs. He was the leading force
behind an international group of neuromuscular experts (which Prof de Visser and
myself were part of) which continuously generated guidelines about the manage-
ment of NMD patients during the SARS-CoV-2 pandemic. Prof de Visser from
Amsterdam (the Netherlands) is a world-known leader in neuromuscular disorders.
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vi Foreword
Her constant drive to dissipate the knowledge in various fields of NMDs is evident
not only by her long publication list, but also by her activity in various international
neurological societies in which she played a leading role. I was honored to collabo-
rate with both of them in academic teaching in the NMD field and they are clearly
most suitable for the production of this book. They have indeed assembled a group
of leading experts to generate this publication (and contributed chapters in their
field of interest).
The book covers many aspects of the emergency conditions which are typical for
NMDs. Early recognition and evaluation of the emergency situation is of prime
importance and two chapters are devoted to it. Respiratory management is discussed
not only in the acute critical care but two chapters discuss also weaning patients
from respiratory support and also chronic ventilation enabling many patients with
NMDs to continue social and even productive life with chronic breathing support.
Emergencies in specific conditions are reviewed in seven separate chapters of this
book (from motor neuron disorders, through peripheral neuropathies and neuromus-
cular junction, myopathies and various metabolic myopathies). One should remem-
ber that ICU hospitalization may by itself be a risk for neuromuscular complications
and chronic sequelae and a full chapter is devoted to this under-recognized topic.
We should commend the Editors for not forgetting ethical and social aspects of
emergencies in NMDs devoting a chapter to palliative care and another to countries
with limited resources to administer the most advanced emergency treatment to
their patients.
In summary, this book is an important addition not only to the NMDs experts but
also to physicians of various fields of medicine who deal with such patients.
Professor (Emeritus) of Neurology Zohar Argov
Hadassah Medical Center
Jerusalem, Israel
Faculty of Medicine
Hebrew University of Jerusalem
Jerusalem, Israel
Preface
Neuromuscular disorders are a heterogeneous group of conditions with genetic,
inflammatory, metabolic and sometimes infectious backgrounds. These conditions
rarely present as a neuromuscular emergency, although many chronic neuromuscu-
lar disorders carry the potential for acute deterioration or may rarely manifest pri-
marily as acute illness.
Expertise on neuromuscular disorders is often concentrated in highly specialized
neuromuscular clinics that focus on diagnostics and long-term management rather
than on the management of emergency situations. Therefore, neuromuscular patients
presenting with acute illness are initially likely to be managed by physicians who
have little or no experience of treating patients with neuromuscular disease. The
potential for misinterpretation of clinical symptoms and signs, misdiagnosis, and
mismanagement is therefore high. Conversely, and especially if there is comorbid-
ity, misdiagnosis of the acute episode may occur if the patient is initially evaluated
by a neuromuscular expert with limited exposure to emergency medicine. Ideally,
neuromuscular experts will advise on timely specialist tests in the acute setting in
consultation with emergency physicians if a neuromuscular patient is presented as
an emergency.
This was the rationale for writing Emergencies in Neuromuscular Disorders.
This comprehensive book addresses the emergencies in neuromuscular disease
from the perspective of timely recognition and assessment, diagnosis and manage-
ment. The book fills the gap in guidelines by providing an evidence-based guidance
for the adult or pediatric neurologist confronted by an acutely ill patient in a poten-
tially life-threatening situation.
Each chapter is strictly organized around case vignettes that emphasize clinical
relevance. The electronic supplementary material is provided as an integral tool to
facilitate accessibility and understanding of a notoriously difficult field of neurol-
ogy. The role of patients, who are increasingly involved in many management deci-
sions, is highlighted in a chapter on ethical issues discussing withholding or
withdrawing life-sustaining therapy, patient end-of-life values, wishes, and prefer-
ences, and on advance directives. Finally, at the end of each chapter, there is a set of
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viii Preface
questions which is meant to serve as a learning aid by assessing the knowledge from
the preceding chapter.
The publication is aimed equally at the non-specialist neurologist/pediatrician
(in training) in frontline clinical practice confronted by a rare disorder needing
immediate management decisions, at the clinical specialist referring for guidance in
specific management aspects, and at the specialist researcher keen to maintain clinic
relevance.
We chose the authors of each chapter based on their expertise in their field, and
we are extremely grateful for their contributions. A special thanks also goes to Jan
Kuks who was responsible for the self-assessment questions.
We hope that you will enjoy reading this book and develop a greater confidence
in caring for your patients with neuromuscular disorders if they present in an emer-
gency situation.
Ipswich, Suffolk, UK Maxwell Damian
Amsterdam, The Netherlands Marianne de Visser
Contents
1 Recognition and Assessment of the Neuromuscular
Emergency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Maxwell Damian and Marianne de Visser
2 Diagnostic Tests in the Acute Setting: Strengths
and Limitations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
Jens Reimann and Lokesh Wijesekera
3 Respiratory Management in Acute Neuromuscular
Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79
Maxwell Damian and Eelco F. M. Wijdicks
4 Management of Respiratory Emergencies
in Chronic Neuromuscular Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . 109
Michael A. Gaytant and Peter J. Wijkstra
5 Weaning from the Ventilator and Long- Term
Respiratory Support . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 127
Susana Quijano-Roy, Blaise Mbieleu, Jean Bergounioux,
and Helene Prigent
6 Emergencies in Motor Neuron Diseases . . . . . . . . . . . . . . . . . . . . . . . . 155
Laurent Servais and Philip Van Damme
7 Emergencies in Peripheral Neuropathies . . . . . . . . . . . . . . . . . . . . . . . 181
Alejandro A. Rabinstein
8 Infectious Diseases of the Peripheral Nerve
and Spinal Cord . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 205
Varun Sethi and Hadi Manji
9 The Acute and Emergency Management of Neuromuscular
Junction Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 235
Maxwell Damian, Jennifer Spillane, and Pinki Munot
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x Contents
10 Emergencies in Acute Myopathies: Acute Toxic Myopathies,
Rhabdomyolysis, and Malignant Hyperthermia . . . . . . . . . . . . . . . . . 267
Benedikt Schoser and Heinz Jungbluth
11 Emergencies in Idiopathic Inflammatory Myopathies . . . . . . . . . . . . 283
Hannah A. W. Walter, Stefanie Glaubitz, Jens Schmidt,
and Anneke J. van der Kooi
12 The Emergency and Intensive Care Management
of Metabolic Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 319
Annika Saak and Jochen Schaefer
13 Intensive Care Implications in Primary Mitochondrial
Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 345
Jelle van den Ameele, Yi Shiau Ng, Grainne S. Gorman,
and Rita Horvath
14 ICU-Related Neuromuscular Weakness
and Neuromuscular Differential Diagnoses in the ICU . . . . . . . . . . . . 379
Janneke Horn and Nicola Latronico
15 Neuromuscular Emergencies from a Low-
and Middle-Income Countries Perspective . . . . . . . . . . . . . . . . . . . . . . 393
Gentle Sunder Shrestha, Gaurav Nepal, and Rajeev Ojha
16 Neuromuscular Disorders and Palliative Care in Adults . . . . . . . . . . 425
Derek Willis, Tracey Willis, and Marianne de Visser
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 445