Motor System Disorders: Normal Physiology and Function and Neuromuscular Disorders summarizes recent advances and best practice for understanding normal physiology and function of the larger motor system as well as the diagnosis, course, and treatment of neuromuscular disorders. The work will include neuroanatomy, circuits and synapses. It discusses how different parts of the brain contribute to motor control, including both vestibular and cerebellar motor control, as well as the influences of the parietal and frontal lobes. Diagnostic methods include genetic evaluation, electrodiagnosis, pathology, and brain imaging. Neuromuscular disorders of both children and adults will be included.
1. Introduction - p. 183 2. Mitochondrial Genetics - p. 183 3. Clinical Clues of a Neurogenetic Motor Disorder - p. 184 4. Genetic Neurological Disorders - p. 187 5. Genetic Sequencing Strategies - p. 210 6. Factors Influencing Phenotypical Gene Expression - p. 210 7. Genetic Biomarkers - p. 213 8. Defects in RNA Processing - p. 216 9. Repeat Expansions Diseases - p. 219 10. Genomic Imprinting and Epigenetics - p. 233 11. Assignment of a Gene Defect - p. 234 12. References - p. 235 13. Chapter 10: Neuromuscular electrodiagnosis - p. 251 14. Chapter 11: Quantitative electrodiagnosis of the motor unit - p. 271 15. Chapter 12: Neuromuscular pathology - p. 287 16. Chapter 13: Electrophysiological assessment of peripheral and central autonomic disorders - p. 301 17. Chapter 14: On the path to evidence-based therapy in neuromuscular disorders - p. 323 18. Abstract - p. 323 19. Introduction - p. 323 20. Motor Neuron Disease - p. 316 21. Peripheral Neuropathy - p. 320 22. Myasthenia Gravis - p. 336 23. Muscular Dystrophy - p. 346 24. Conclusions - p. 350 25. References - p. 350 26. Chapter 15: Advances in the neuroimaging of motor disorders - p. 359 27. Chapter 16: Sleep-related motor disorders - p. 383 28. Section 3: Neuromuscular disorders - p. 397 29. Chapter 17: Neonatal and infantile hypotonia - p. 405 30. Chapter 18: Autoimmune inflammatory myopathies - p. 425 31. Chapter 19: Childhood muscular dystrophies - p. 461 32. Chapter 20: Distal myopathy - p. 498 33. Chapter 21: Muscle channelopathies - p. 521 34. Chapter 22: Congenital myopathies - p. 533 35. Chapter 23: Mitochondrial encephalomyopathy - p. 564 36. Chapter 24: Autoimmune polyneuropathies - p. 587 37. Chapter 25: Hereditary neuropathy - p. 609 38. Chapter 26: Acute/chronic inflammatory polyradiculoneuropathy - p. 619 39. Chapter 27: Myasthenia gravis and congenital myasthenic syndromes - p. 635 40. Chapter 28: Adult and childhood vasculitis - p. 680 41. Abstract - p. 680 42. Nomenclature - p. 680 43. Historical Themes - p. 655 44. History and Examination - p. 676 45. Laboratory Evaluation - p. 678 46. Treatment - p. 679 47. Conclusions - p. 693 48. References - p. 693 49. Chapter 29: Critical illness–associated weakness and related motor disorders - p. 736 50. Abstract - p. 736 51. Abbreviations - p. 736 52. Introduction - p. 736 53. Background - p. 736 54. Nosology - p. 709 55. Neuromuscular Assessment - p. 710 56. Respiratory Assessment - p. 718 57. Critical Illness Motor Disorders Prompting ICU Admission - p. 722 58. Critical Illness Weakness That Develops in the ICU - p. 750 59. Conclusion - p. 761 60. References - p. 762 61. Index - p. 777
Motor System Disorders: Normal Physiology and Function and Neuromuscular Disorders summarizes recent advances and best practice for understanding normal physiology and function of the larger motor system as well as the diagnosis, course, and treatment of neuromuscular disorders. The work will include neuroanatomy, circuits and synapses. It discusses how different parts of the brain contribute to motor control, including both vestibular and cerebellar motor control, as well as the influences of the parietal and frontal lobes. Diagnostic methods include genetic evaluation, electrodiagnosis, pathology, and brain imaging. Neuromuscular disorders of both children and adults will be included.
1. Introduction - p. 183 2. Mitochondrial Genetics - p. 183 3. Clinical Clues of a Neurogenetic Motor Disorder - p. 184 4. Genetic Neurological Disorders - p. 187 5. Genetic Sequencing Strategies - p. 210 6. Factors Influencing Phenotypical Gene Expression - p. 210 7. Genetic Biomarkers - p. 213 8. Defects in RNA Processing - p. 216 9. Repeat Expansions Diseases - p. 219 10. Genomic Imprinting and Epigenetics - p. 233 11. Assignment of a Gene Defect - p. 234 12. References - p. 235 13. Chapter 10: Neuromuscular electrodiagnosis - p. 251 14. Chapter 11: Quantitative electrodiagnosis of the motor unit - p. 271 15. Chapter 12: Neuromuscular pathology - p. 287 16. Chapter 13: Electrophysiological assessment of peripheral and central autonomic disorders - p. 301 17. Chapter 14: On the path to evidence-based therapy in neuromuscular disorders - p. 323 18. Abstract - p. 323 19. Introduction - p. 323 20. Motor Neuron Disease - p. 316 21. Peripheral Neuropathy - p. 320 22. Myasthenia Gravis - p. 336 23. Muscular Dystrophy - p. 346 24. Conclusions - p. 350 25. References - p. 350 26. Chapter 15: Advances in the neuroimaging of motor disorders - p. 359 27. Chapter 16: Sleep-related motor disorders - p. 383 28. Section 3: Neuromuscular disorders - p. 397 29. Chapter 17: Neonatal and infantile hypotonia - p. 405 30. Chapter 18: Autoimmune inflammatory myopathies - p. 425 31. Chapter 19: Childhood muscular dystrophies - p. 461 32. Chapter 20: Distal myopathy - p. 498 33. Chapter 21: Muscle channelopathies - p. 521 34. Chapter 22: Congenital myopathies - p. 533 35. Chapter 23: Mitochondrial encephalomyopathy - p. 564 36. Chapter 24: Autoimmune polyneuropathies - p. 587 37. Chapter 25: Hereditary neuropathy - p. 609 38. Chapter 26: Acute/chronic inflammatory polyradiculoneuropathy - p. 619 39. Chapter 27: Myasthenia gravis and congenital myasthenic syndromes - p. 635 40. Chapter 28: Adult and childhood vasculitis - p. 680 41. Abstract - p. 680 42. Nomenclature - p. 680 43. Historical Themes - p. 655 44. History and Examination - p. 676 45. Laboratory Evaluation - p. 678 46. Treatment - p. 679 47. Conclusions - p. 693 48. References - p. 693 49. Chapter 29: Critical illness–associated weakness and related motor disorders - p. 736 50. Abstract - p. 736 51. Abbreviations - p. 736 52. Introduction - p. 736 53. Background - p. 736 54. Nosology - p. 709 55. Neuromuscular Assessment - p. 710 56. Respiratory Assessment - p. 718 57. Critical Illness Motor Disorders Prompting ICU Admission - p. 722 58. Critical Illness Weakness That Develops in the ICU - p. 750 59. Conclusion - p. 761 60. References - p. 762 61. Index - p. 777
