Neuromuscular Disease
A Case-Based Approach

66 highly-illustrated adult and paediatric neuromuscular cases, with state-of-the-art diagnostic investigations and treatment and care plans.

Jessica E. Hoogendijk (Author), Marianne de Visser (Author), Pieter A. van Doorn (Author), Erik H. Niks (Author)

9781108744188, Cambridge University Press

Paperback / softback, published 19 December 2024

294 pages
25.5 x 17.9 x 1.5 cm, 0.62 kg

There are over 800 neuromuscular disorders and this can leave clinicians feeling lost as they try to diagnose and manage patients. On the basis of 66 adult and paediatric neuromuscular case vignettes, readers will be walked through using case histories and clinical manifestations as a starting point for diagnosis. For each case, diagnostic tools, disease pathogenesis, prognosis and treatment options are discussed. Symptoms, signs and syndromes are cross-linked to help the reader navigate the array of disorders. Accompanying tables explain differential diagnoses and 30 videos demonstrate clinical features. This second edition has been thoroughly updated as the neuromuscular subspecialty has developed from clinically and pathologically descriptive to making use of new diagnostic technologies and therapies. Neurologists at all levels, paediatricians, internists, geneticists, rehabilitation physicians, physiotherapists and researchers in the field will find this an invaluable guide, as they seek to familiarise themselves with this complex range of disorders.

Part I. Evaluation and Treatment of Patients with a Neuromuscular Disorder: 1. Neuromuscular diseases: anterior horn cell disorders, peripheral neuropathies, neuromuscular junction disorders, myopathies
2. History taking and clinical examination
3. Differential diagnosis by presenting or prominent clinical feature
4. Electrodiagnostic studies
5. Imaging
6. Muscle and nerve pathology
7. Genetic testing
8. Management
Part II. Neuromuscular Cases
Disorders of the Anterior Horn Cell: 1. Amyotrophic lateral sclerosis
2. Primary lateral sclerosis, 3. Progressive muscular atrophy)
4. Segmental spinal muscular atrophy
5. Spinal and bulbar muscular atrophy (SBMA
Kennedy disease)
6. Spinal muscular atrophy type I
7. Spinal muscular atrophy type 3
8. Post-polio syndrome
poliomyelitis anterior acuta, West Nile virus poliomyelitis, acute flaccid weakness in children
Peripheral Neuropathies: 9. Guillain-Barré syndrome and Miller-Fisher syndrome
10. Chronic inflammatory demyelinating polyneuropathy
11. IgM anti-MAG polyneuropathy
12. Polyneuropathy, organomegaly, endocrine manifestations, monoclonal protein, and skin changes syndrome
13. Vasculitic neuropathy
14. Small fibre neuropathy
15. Paraneoplastic sensory neuronopathy (SNN, ganglionopathy)
16. Wartenberg migrant sensory neuropathy
17. Multifocal motor neuropathy
18. Peripheral nerve hyperexcitability syndromes: Morvan syndrome
19. Idiopathic brachial plexus neuropathy, neuralgic amyotrophy
20. Diabetic polyneuropathy
21. Alcoholic polyneuropathy
22. Chronic idiopathic axonal polyneuropathy
23. Critical illness polyneuropathy and myopathy
24. Drug-induced polyneuropathies: Amiodarone polyneuropathy
25. Lyme radiculopathy
26. Leprosy
27. Charcot-Marie-Tooth disease type 1a/Hereditary neuropathy with liability to pressure palsies
28. Charcot-Marie-Tooth disease type 2a and 2b
29. Hereditary sensory and autonomic neuropathy type 4
30. Hereditary transthyretin amyloidosis
Disorders of the Neuromuscular Junction: 31. Myasthenia gravis with acetylcholine receptor antibodies
32. Myasthenia gravis with MuSK antibodies
33. Drug-induced myasthenia gravis: Immune checkpoint inhibitor-related
34. Lambert-Eaton myasthenic syndrome
35. Congenital myasthenic syndromes: Dok7
Myopathies: 36. Duchenne muscular dystrophy
37. Becker muscular dystrophy
38. Facioscapulohumeral muscular dystrophy
39. Myotonic dystrophy type 1
40. Myotonic dystrophy type 2
41. Limb girdle muscular dystrophy R1, calpain-related
42. Limb girdle muscular dystrophy R9, FKRP-related
43. Bethlem myopathy, a collagen VI-related myopathy
Ullrich congenital muscular dystrophy
44. Oculopharyngeal muscular dystrophy
45. Emery-Dreifuss muscular dystrophy
46. Caveolinopathy, rippling muscle disease
47. Distal myopathies: Miyoshi myopathy, dysferlinopathy
anoctaminopathy
48. Distal myopathies: GNE myopathy
49. Myofibrillar myopathies: Desminopathy
50. Skeletal muscle channelopathies: non-dystrophic myotonia
myotonia congenita (Becker)
51. Skeletal muscle channelopathies: hypokalaemic periodic paralysis
52. Pompe Disease (glycogen storage disease type II
α-glucosidase deficiency)
53. McArdle Disease (glycogen storage disease type V)
myophosphorylase deficiency), rhabdomyolysis
54. Carnitine palmitoyltransferase-II deficiency
55. Mitochondrial myopathies: chronic progressive external ophthalmoplegia
56. Ryanodine receptor 1-related disorders
57. Congenital myopathies: X-linked myotubular myopathy
58. Congenital myopathies: nemaline myopathy
59. Juvenile dermatomyositis
60. Dermatomyositis
61. Immune-mediated necrotising myopathy
62. Inclusion body myositis
63. Endocrine myopathy: Hypothyroid myopathy
hyperthyroid myopathy
64. Drug-induced myopathies: hydroxychloroquine myopathy
65. A- or paucisymptomatic hyperCKaemia
66. Exertional rhabdomyolysis.

Subject Areas: Neurology & clinical neurophysiology [MJN]