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…mehr
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.
Jessica E. Hoogendijk is a neurologist at the University Medical Center Utrecht. She co-organised the national continuing education program on neuromuscular disorders for general neurologists. As an awarded qualified medical teacher, she enjoys guiding residents and fellows at the ERN-certified centre of expertise for neuromuscular disorders in Utrecht.
Inhaltsangabe
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 ¿-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.
