Muscle Diseases. A Guide to Differential Diagnosis, Investigation and Management

Preface

About the editors

List of contributors

Introduction

Abbreviations

 

Chapter 1 History

Andria Merrison

 

Chapter 2 Muscle examination

Stefen Brady

 

Chapter 3 Serological tests

Stefen Brady

 

Chapter 4 Muscle antibodies

Maria Mirza and Joel David

 

Chapter 5 Neurophysiology

Andria Merrison and Agyepong Oware

 

Chapter 6 Muscle biopsy

Andria Merrison and Kathryn Urankar

 

Chapter 7 Muscle imaging

Rajat Chowdhury

 

Chapter 8 Genetic investigations in neuromuscular diseases

Kate Sergeant and Carl Fratter

 

Chapter 9 Management, treatment and therapy for neuromuscular conditions

Andria Merrison

 

Chapter 10 Closing comments

Stefen Brady

 

Section Cases

 

Case 1

Stefen Brady

 

Case 2

Sithara Ramdas

 

Case 3

Stefen Brady

 

Case 4

Andria Merrison

 

Case 5

Andria Merrison

 

Case 6

Andria Merrison

 

Case 7

Stefen Brady

 

Case 8

Andria Merrison

 

Case 9

Andria Merrison

 

Case 10

Andria Merrison

 

Case 11

Sithara Ramdas

 

Case 12

Andria Merrison

 

Case 13

Louisa Kent and Stefen Brady

 

Case 14

Andria Merrison

 

Case 15

Stefen Brady

 

Case 16

Andria Merrison

 

Case 17

Andria Merrison

 

Case 18

Andria Merrison

 

Case 19

Stefen Brady

 

Case 20

Kezia Austin and Harsha Gunawardena

 

Case 21

Charlotte David and Joel David

 

Case 22

Matthew Wells and Harsha Gunawardena

 

Case 23

Stefen Brady

 

Case 24

Andria Merrison

 

Case 25

Louisa Kent and Stefen Brady

 

Case 26

Stefen Brady

 

Case 27

Stefen Brady

 

Case 28

Stefen Brady

 

Case 29

Andria Merrison

 

Case 30

Stefen Brady

 

Case 31

Stefen Brady

 

Case 32

Stefen Brady

 

Case 33

Stefen Brady

 

Case 34

Stefen Brady

 

Case 35

Andria Merrison

 

Case 36

Andria Merrison

 

Index

 

This volume is a how-to guide on the clinical assessment and investigation of patients presenting with muscle-related symptoms. Featuring a case-based approach, this accessible text is suitable for a wide range of clinical specialists who see patients presenting with both common and rare muscle diseases.

Muscle diseases are often initially missed or misdiagnosed, as they are uncommon disorders and can present in a variety of ways, often mimicking other more common disorders. Careful assessment of the history, physical examination and appropriate choice of investigations is therefore essential to reaching a diagnosis and providing short- and long-term effective management plans. Key features of this resource include:

• A case-based approach using real cases seen in clinical practice and highlighting different clinical presentations
• Case vignettes that cover patient history, examination, investigations, diagnosis and discussion points to assist the reader in developing a mental framework for thinking about muscle disease and approaching diagnosis
• The relevant investigations (including muscle biopsy, neurophysiology and muscle imaging) required for each clinical scenario, aiding the clinician in clinicopathological correlation
• Being concise, practical and complemented by a wide range of figures to enhance understanding

Patients with muscle diseases may be referred to one of several medical or surgical specialties, including neurology, rheumatology, neuropathology, neurophysiology, cardiology, respiratory medicine, intensive care medicine, gastroenterology, ophthalmology, orthopaedic and spinal surgery, before the correct diagnosis is considered. This accessible text is an ideal resource for clinicians.

Dr Andria FA Merrison, MA MBChB MD FRCP is a Consultant Neurologist based in North Bristol NHS Trust and is the Director of the South West Neuromuscular Operational Delivery Network and the Bristol Motor Neurone Disease Centre.

Dr Stefen Brady BA, MB, BCh, BAO, FRCP, DPhil is a Consultant Neurologist and Clinical Lead of the Oxford Adult Muscle and Spinal Muscular Atrophy (SMA) Services, Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford.