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El. knyga: Neuromuscular Disease: A Case-Based Approach

  • Formatas: PDF+DRM
  • Išleidimo metai: 07-Mar-2013
  • Leidėjas: Cambridge University Press
  • Kalba: eng
  • ISBN-13: 9781107330535
  • Formatas: PDF+DRM
  • Išleidimo metai: 07-Mar-2013
  • Leidėjas: Cambridge University Press
  • Kalba: eng
  • ISBN-13: 9781107330535

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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.

Recenzijos

'The authors have made a great effort to appear to a diverse audience by keeping this a concise, easy-to-digest, comprehensive text on a neuromuscular medicine the book will be of great value to neurology residents who want an easy ready on this complicated subject.' Ahmed M. Yassin, Neurology

Daugiau informacijos

A highly-illustrated, case-based clinical guide for diagnosing and managing adult neuromuscular disease, starting from the case-history to mimic clinical practice.
Preface vii
Abbreviations ix
Introduction: approach to the patient 1(22)
Section 1 Motor neuron diseases
Case 1 Classic amyotrophic lateral sclerosis
23(6)
Case 2 Amyotrophic lateral sclerosis with frontotemporal dementia
29(2)
Case 3 Primary lateral sclerosis
31(2)
Case 4 Progressive muscular atrophy
33(2)
Case 5 Kennedy disease
35(1)
Case 6 Spinal muscular atrophy type 3, Kugelberg-Welander disease
36(3)
Case 7 Postpoliomyelitis syndrome
39(2)
Case 8 Spinal dural fistula
41(4)
Section 2 Neuropathies
Case 9 Charcot-Marie-Tooth disease type 1A
45(3)
Case 10 Hereditary neuropathy with liability to pressure palsy
48(2)
Case 11 Charcot-Marie-Tooth disease type 2A, mitofusinopathy
50(2)
Case 12 X-linked Charcot-Marie-Tooth disease
52(2)
Case 13 Hereditary sensory and autonomic neuropathy type 4
54(2)
Case 14 Guillain-Barre syndrome
56(4)
Case 15 Miller-Fisher syndrome
60(2)
Case 16 Chronic inflammatory demyelinating polyneuropathy
62(3)
Case 17 Multifocal motor neuropathy
65(3)
Case 18 Peripheral nerve hyperexcitability syndrome, Morvan's syndrome
68(2)
Case 19 Vasculitic neuropathy
70(1)
Case 20 Neuropathy and ataxia caused by immunoglobulin-M gammopathy
71(3)
Case 21 Polyneuropathy, organomegaly, endocrine manifestations, monoclonal protein, and skin changes
74(2)
Case 22 Subacute sensory paraneoplastic neuropathy and ganglionopathy
76(2)
Case 23 Neurolymphomatosis
78(2)
Case 24 Diabetic polyneuropathy
80(2)
Case 25 Alcoholic neuropathy
82(1)
Case 26 Human immunodeficiency virus neuropathy
83(2)
Case 27 Lyme radiculoneuritis
85(3)
Case 28 Lepromatous neuropathy
88(2)
Case 29 Toxic iatrogenic neuropathy
90(2)
Case 30 Idiopathic neuralgic amyotrophy
92(2)
Case 31 Small nerve fiber neuropathy
94(2)
Case 32 Critical illness polyneuropathy
96(3)
Case 33 Chronic idiopathic axonal polyneuropathy
99(4)
Section 3 Neuromuscular junction disorders
Case 34 Classic myasthenia gravis
103(4)
Case 35 Myasthenia gravis with autoantibodies to muscle-specific kinase
107(1)
Case 36 Lambert-Eaton myasthenic syndrome
108(3)
Case 37 Congenital myasthenic syndrome, slow channel syndrome
111(4)
Section 4 Myopathies
Case 38 Becker muscular dystrophy
115(4)
Case 39 Caveolinopathy, including limb girdle muscular dystrophy type 1C
119(1)
Case 40 Limb girdle muscular dystrophy type 2A, calpainopathy
120(2)
Case 41 Limb girdle muscular dystrophy type 21, fukutin-related protein deficiency
122(3)
Case 42 Emery-Dreifuss muscular dystrophy
125(2)
Case 43 Facioscapulohumeral dystrophy
127(1)
Case 44 Miyoshi distal myopathy, dysferlin myopathy
128(5)
Case 45 Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy
133(3)
Case 46 Oculopharyngeal muscular dystrophy
136(1)
Case 47 Myofibrillar myopathies
137(2)
Case 48 Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease
139(2)
Case 49 Bethlem myopathy
141(2)
Case 50 Myotonic dystrophy type 1, Curschmann-Steinert disease
143(2)
Case 51 Myotonic dystrophy type 2, proximal myotonic myopathy
145(1)
Case 52 Becker myotonia, chloride channelopathy
146(2)
Case 53 Glycogen storage disease type 2, Pompe disease
148(2)
Case 54 Glycogen storage disease type 5, McArdle disease
150(3)
Case 55 Mitochondrial disease: progressive ophthalmoplegia
153(3)
Case 56 Myositis
156(3)
Case 57 Sporadic inclusion body myositis
159(2)
Case 58 Sarcoid myopathy
161(3)
Case 59 Hypothyroid myopathy
164(2)
Video legends 166(2)
Index 168
John H. J. Wokke is Professor of Neurology and Head of the Neurology Residency Program, Department of Neurology and Neurosurgery, University Medical Center Utrecht, The Netherlands. Pieter A. van Doorn is Professor of Neurology, Department of Neurology, Erasmus MC, University Medical Center Rotterdam, The Netherlands. Jessica E. Hoogendijk is a neurologist in the Department of Neurology, University Medical Center Utrecht, The Netherlands. Marianne de Visser is Professor of Neuromuscular Disorders, Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.