Neuromuscular Disease
-10%
portes grátis
Neuromuscular Disease
A Case-Based Approach
Niks, Erik H.; Hoogendijk, Jessica E.; de Visser, Marianne; van Doorn, Pieter A.
Cambridge University Press
12/2024
294
Mole
Inglês
9781108744188
15 a 20 dias
Descrição não disponível.
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-Barre 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.
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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-Barre 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.
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