1st Edition
Muscle Diseases A Guide to Differential Diagnosis, Investigation and Management
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.
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
Biography
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.
