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Neuromuscular Disease: A Case-Based Approach
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JNC Academic Books
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John H. J. Wokke, Pieter A. van Doorn, Jessica E. Hoogendijk, Marianne de VisserCambridge University Press, 3/7/2013EAN 9780521171854, ISBN10: 0521171857Paperback, 178 pages, 24.6
x 18.8 x 1 cmLanguage: EnglishThere 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.PrefaceAbbreviationsIntroductionapproach to the patientPart I. Motor Neurone DiseasesCase 1. Classical amyotrophic lateral sclerosisCase 2. ALS with frontotemporal dementiaCase 3. Primary lateral sclerosisCase 4. Progressive muscular atrophyCase 5. Kennedy diseaseCase 6. Spinal muscular atrophy type III, Kugelberg-Welander diseaseCase 7. Post-polio syndromeCase 8. Spinal dural fistulaPart II. NeuropathiesCase 9. Charcot-Marie-Tooth disease type 1ACase 10. Hereditary neuropathy with liability to pressure palsyCase 11. Charcot-Marie-Tooth disease type 2A, mitofusinopathyCase 12. X-linked Charcot-Marie-Tooth diseaseCase 13. Hereditary sensory and autonomic neuropathy type 4Case 14. Guillain-Barré syndromeCase 15. Miller-Fisher syndromeCase 16. Chronic inflammatory demyelinating polyneuropathyCase 17. Multifocal motor neuropathyCase 18. Peripheral nerve hyperexcitability syndrome, Morvan's syndromeCase 19. Vasculitic neuropathyCase 20. Neuropathy and ataxia caused by IgM gammopathyCase 21. Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changesCase 22. Subacute sensory paraneoplastic neuropathy and ganglionopathyCase 23. NeurolymphomatosisCase 24. Diabetic neuropathyCase 25. Alcohol neuropathyCase 26. HIV neuropathyCase 27. Lyme radiculoneuritisCase 28. Lepromatous neuropathyCase 29. Toxic iatrogenic neuropathyCase 30. Idiopathic neuralgic amyotrophyCase 31. Small nerve fibre neuropathyCase 32. Critical illness polyneuropathyCase 33. Chronic idiopathic axonal polyneuropathyPart III. Neuromuscular Junction DisordersCase 34. Classic myasthenia gravisCase 35. Myasthenia gravis with autoantibodies to MuSKCase 36. Lambert-Eaton myasthenic syndromeCase 37. Congenital myasthenic syndromeslow channel syndromePart IV. MyopathiesCase 38. Becker muscular dystrophyCase 39. Caveolinopathy, including limb girdle muscular dystrophy type 1CCase 40. Limb girdle muscular dystrophy type 2A, calpainopathyCase 41. Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiencyCase 42. Emery-Dreifuss muscular dystrophyCase 43. Facio-scapulo-humeral dystrophyCase 44. Miyoshi myopathy, dysferlinopathy, limb girdle muscular dystrophy type 2BCase 45. Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathyCase 46. Oculopharyngeal muscular dystrophyCase 47. A woman with a family history of muscle weakness and severe cardiac complaints, desminopathyCase 48. Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core diseaseCase 49. Bethlem myopathyCase 50. Myotonic dystrophy type 1, Curschmann-Steinert diseaseCase 51. Myotonic dystrophy type 2, proximal myotonic myopathyCase 52. Becker myotonia, chloride channelopathyCase 53. Glycogen storage disease type 2, Pompe diseaseCase 54. Glycogen storage disease type 5, McArdle diseaseCase 55. Mitochondrial diseaseprogressive ophthalmoplegiaCase 56. MyositisCase 57. Sporadic inclusion body myositisCase 58. Sarcoid myopathyCase 59. Hypothyroid myopathyVideo legendsIndex.
