MUSCLE DISEASES. A GUIDE TO DIFFERENTIAL DIAGNOSIS, INVESTIGATION AND MANAGEMENT

1. History
2. Muscle Examination
3. Serological Tests
4. Muscle Antibodies
5. Neurophysiology
6. Muscle Pathology/ Muscle Biopsy
7. Muscle Imaging
8. Genetic investigations in neuromuscular diseases 9. Management, treatment and therapy for Neuromuscular conditions
10. Close

CASES
1. Becker muscular dystrophy 2. Duchenne muscular dystrophy 3. Facioscapulohumeral muscular dystrophy
4. Recessive limb girdle muscular dystrophy R1 (calpainopathy)
5. Recessive limb girdle muscular dystrophy R12 (ANO5)
6. Dominant limb girdle muscular dystrophy (Emery-Dreifuss muscular dystrophy 2)
7. Collagen VI myopathy
8. Nemaline myopathy
9. Emery-Dreifuss muscular dystrophy
10. GNE myopathy
11. Ryanodine receptor 1 (RyR1) congenital myopathy
12. BAG3 myofibrillar myopathy
13. Distal myopathy
14. Oculopharyngeal muscular dystrophy
15. Tubular aggregate myopathy
16. Myotonic dystrophy type 1
17. Myotonic dystrophy type 2
18. Myotonia congenita
19. Inclusion body myositis (IBM)
20. Dermatomyositis
21. ASS
22. Sarcoid myopathy
23. Statin-related myopathy
24. Critical illness myopathy
25. Thyroid myopathy
26. Asymptomatic hyperCKaemia
27. Neck extensor myopathy
28. McArdle disease
29. Acid maltase deficiency (Pompe disease)
30. Fatty acid oxidation disorders
31. Adult-onset ryanodine receptor 1 (RYR1) related myopathy
32. Progressive external ophthalmoplegia
33. Mitochondrial encephalopathy, lactic acidosis & stroke-like episodes (MELAS)
34. Limb-girdle congenital myasthenia syndrome 35. Spinal muscular atrophy
36. Kennedy’s disease

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.