Neuromuscular Disease: A Case-Based Approach

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There are over 600 neuromuscular disorders and the variability of these syndromes can leave clinicians feeling as if they are lost in a maze as they seek to diagnose and manage patients. This book addresses this problem by using the case-history and symptom manifestation as a starting point for the diagnostic process in adult patients, mimicking the situation in the consultation room. For each case, diagnostic tools, disease pathogenesis, prognosis and treatment options are discussed, along with rare manifestations and differential diagnoses. Symptoms, signs and syndromes are cross-linked to help the reader navigate the variety of disorders. Accompanying tables give a broader picture of the manifestations of a particular disease within the landscape of neuromuscular disorders. This highly-illustrated book, with accompanying videos, will aid neurologists at all levels, internists, geneticists, rehabilitation physicians and researchers in the field, as they seek to familiarize themselves with this complex range of disorders.

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A comprehensive introductory chapter and many tables help to cross-link various signs and symptoms, aiding recognition of phenotypes and diseases

Accompanying pictures and videos enable learning from real cases

Written by experienced neurologists drawing on years of experience diagnosing and managing these disorders

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Table of Contents:

Preface
Abbreviations
Introduction: approach to the patient
Part I. Motor Neurone Diseases: Case

1. Classical amyotrophic lateral sclerosis
Case

2. ALS with frontotemporal dementia
Case

3. Primary lateral sclerosis
Case

4. Progressive muscular atrophy
Case

5. Kennedy disease
Case

6. Spinal muscular atrophy type III, Kugelberg-Welander disease
Case

7. Post-polio syndrome
Case

8. Spinal dural fistula
Part II. Neuropathies: Case

9. Charcot-Marie-Tooth disease type 1A
Case

10. Hereditary neuropathy with liability to pressure palsy
Case

11. Charcot-Marie-Tooth disease type 2A, mitofusinopathy
Case

12. X-linked Charcot-Marie-Tooth disease
Case

13. Hereditary sensory and autonomic neuropathy type 4
Case

14. Guillain-Barr? syndrome
Case

15. Miller-Fisher syndrome
Case

16. Chronic inflammatory demyelinating polyneuropathy
Case

17. Multifocal motor neuropathy
Case

18. Peripheral nerve hyperexcitability syndrome, Morvan's syndrome
Case

19. Vasculitic neuropathy
Case

20. Neuropathy and ataxia caused by IgM gammopathy
Case

21. Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes
Case

22. Subacute sensory paraneoplastic neuropathy and ganglionopathy
Case

23. Neurolymphomatosis
Case

24. Diabetic neuropathy
Case

25. Alcohol neuropathy
Case

26. HIV neuropathy
Case

27. Lyme radiculoneuritis
Case

28. Lepromatous neuropathy
Case

29. Toxic iatrogenic neuropathy
Case

30. Idiopathic neuralgic amyotrophy
Case

31. Small nerve fibre neuropathy
Case

32. Critical illness polyneuropathy
Case

33. Chronic idiopathic axonal polyneuropathy
Part III. Neuromuscular Junction Disorders: Case

34. Classic myasthenia gravis
Case

35. Myasthenia gravis with autoantibodies to MuSK
Case

36. Lambert-Eaton myasthenic syndrome
Case

37. Congenital myasthenic syndrome: slow channel syndrome
Part IV. Myopathies: Case

38. Becker muscular dystrophy
Case

39. Caveolinopathy, including limb girdle muscular dystrophy type 1C
Case

40. Limb girdle muscular dystrophy type 2A, calpainopathy
Case

41. Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency
Case

42. Emery-Dreifuss muscular dystrophy
Case

43. Facio-scapulo-humeral dystrophy
Case

44. Miyoshi myopathy, dysferlinopathy, limb girdle muscular dystrophy type 2B
Case

45. Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy
Case

46. Oculopharyngeal muscular dystrophy
Case

47. A woman with a family history of muscle weakness and severe cardiac complaints, desminopathy
Case

48. Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease
Case

49. Bethlem myopathy
Case

50. Myotonic dystrophy type 1, Curschmann-Steinert disease
Case

51. Myotonic dystrophy type 2, proximal myotonic myopathy
Case

52. Becker myotonia, chloride channelopathy
Case

53. Glycogen storage disease type 2, Pompe disease
Case

54. Glycogen storage disease type 5, McArdle disease
Case

55. Mitochondrial disease: progressive ophthalmoplegia
Case

56. Myositis
Case

57. Sporadic inclusion body myositis
Case

58. Sarcoid myopathy
Case

59. Hypothyroid myopathy
Video legends
Index.

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