Neuromuscular Disease: A Case-Based Approach

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.

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

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-Barré 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.