1st Edition
Muscle Diseases A Guide to Differential Diagnosis, Investigation and Management
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.
• Providing 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.
• Highlighting 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.
1. History
Andria Merrison
2. Muscle Examination
Stefen Brady
3. Serological Tests
Stefen Brady
4. Muscle Antibodies
Maria Mirza and Joel David
5. Neurophysiology
Andria Merrison & Agyepong Oware
6. Muscle Pathology/ Muscle Biopsy
Andria Merrison & Kathy Urankar
7. Muscle Imaging
Rajat Chowdary
8. Genetic investigations in neuromuscular diseases
Kate Sargent and Carl Fratter
9. Management, treatment and therapy for Neuromuscular conditions
Andria Merrison
10. Close
Stefen Brady
CASES
1. Becker muscular dystrophy
Stefen Brady
2. Duchenne muscular dystrophy
Sithara Ramdas
3. Facioscapulohumeral muscular dystrophy
Stefen Brady
4. Recessive limb girdle muscular dystrophy R1 (calpainopathy)
Andria Merrison
5. Recessive limb girdle muscular dystrophy R12 (ANO5)
Andria Merrison
6. Dominant limb girdle muscular dystrophy (Emery-Dreifuss muscular dystrophy 2)
Andria Merrison
7. Collagen VI myopathy
Stefen Brady
8. Nemaline myopathy
Andria Merrison
9. Emery-Dreifuss muscular dystrophy
Andria Merrison
10. GNE myopathy
Andria Merrison
11. Ryanodine receptor 1 (RyR1) congenital myopathy
Sithara Ramdas
12. BAG3 myofibrillar myopathy
Andria Merrison
13. Distal myopathy
Louisa Kent and Stefen Brady
14. Oculopharyngeal muscular dystrophy
Andria Merrison
15. Tubular aggregate myopathy
Stefen Brady
16. Myotonic dystrophy type 1
Andria Merrison
17. Myotonic dystrophy type 2
Andria Merrison
18. Myotonia congenita
Andria Merrison
19. Inclusion body myositis (IBM)
Stefen Brady
20. Dermatomyositis
Kezia Austin & Harsha Gunawardena
21. ASS
Joel David and Charlotte David
22. Sarcoid myopathy
Matthew Wells & Harsha Gunawardena
23. Statin-related myopathy
Stefen Brady
24. Critical illness myopathy
Andria Merrison
25. Thyroid myopathy
Louisa Kent and Stefen Brady
26. Asymptomatic hyperCKaemia
Stefen Brady
27. Neck extensor myopathy
Stefen Brady
28. McArdle disease
Stefen Brady
29. Acid maltase deficiency (Pompe disease)
Andria Merrison
30. Fatty acid oxidation disorders
Stefen Brady
31. Adult-onset ryanodine receptor 1 (RYR1) related myopathy
Stefen Brady
32. Progressive external ophthalmoplegia
Stefen Brady
33. Mitochondrial encephalopathy, lactic acidosis & stroke-like episodes (MELAS)
Stefen Brady
34. Limb-girdle congenital myasthenia syndrome
Stefen Brady
35. Spinal muscular atrophy
Andria Merrison
36. Kennedy’s disease
Andria Merrison
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.