Atlas of Neuromuscular Diseases (eBook)

Prof. Dr. Wolfgang Grisold, Vienna, AustriaEva L. Feldman, M.D., Ph.D., Ann Arbor, MI, USJames W Russell M.B.,Ch.B., M.S., Baltimore, MD, USProf. Dr. Wolfgang Loescher, Innsbruck, Austria

Acknowledgments 8
Contents 10
Collaborators 22
1: Tools 23
1.1 New Developments in Neuromuscular Disease 23
1.2 The Patient with Neuromuscular Disease 24
1.3 History and General Physical Examination 25
1.4 Neuromuscular Clinical Phenomenology 26
1.4.1 Motor Function 26
1.4.2 Abnormal Muscle Movements 27
1.4.3 Reflex Testing 29
1.4.4 Muscle Tone 30
1.4.5 Sensory Symptoms 30
1.5 Sensory Qualities 30
1.5.1 Myalgia and Pain 31
1.5.2 Neuropathic Pain 32
1.5.3 Autonomic Function 32
1.5.4 Gait, Coordination 33
1.5.5 Clinical Pitfalls 33
1.6 NCV/EMG/Autonomic Testing and Miscellaneous Electrophysiology 34
1.6.1 Motor NCV Studies 34
1.6.2 EMG Techniques 36
1.7 Laboratory Tests 36
1.7.1 Autoimmune Testing in Neuromuscular Transmission and Muscle Disorders 37
1.8 Genetic Testing 38
1.9 Neuroimaging Techniques: MR and Ultrasound 38
1.9.1 Imaging of the Spine and Vertebral Column 38
1.9.2 Imaging Muscle Disease 38
1.9.3 Imaging of Peripheral Nerves 40
1.10 Tissue Diagnosis: Muscle/Nerve/Skin Biopsy 40
1.10.1 Nerve Biopsy 41
1.10.2 Muscle Biopsy 41
1.11 Neuromuscular Approaches to Intervention: Effects of Regional Anesthetic Procedures 41
References 42
2: Principles of Peripheral Nerve Surgery 44
2.1 Defining the Problem 44
2.2 Timing of Nerve Repair 44
2.3 Restoration of Nerve Continuity 44
2.3.1 End-to-End Coaptation (Direct Nerve Repair) 44
2.3.2 Nerve Grafting 46
Autologous Nerve Grafts (Nerve Autografting) 46
Nerve Allografts (Nerve Allografting) 46
Nerve Conduits (Conduit Repair) 46
2.4 End-to-Side Coaptation 46
2.5 Nerve Transfer 47
2.6 Neurolysis 47
Conclusions 47
References 47
3: Principles of Nerve and Muscle Rehabilitation 48
3.1 Principles 48
3.2 Outcome Measurement 48
3.3 Rehabilitation Treatment 49
3.3.1 Exercise and Medical Training 49
Exercise 49
Strength Training 50
Endurance Training 51
3.3.2 Occupational Therapy and Splints 51
3.3.3 Orthoses 51
3.3.4 Neural Plasticity 51
3.3.5 Surgery 52
3.3.6 Physical Modalities 52
Electrotherapy 52
Massage, Lymphatic Drainage 53
Thermotherapy, Ultrasound 53
3.3.7 Treatment Options for Autonomic Symptoms 53
3.4 Mononeuropathies 53
3.4.1 Median Neuropathy 53
Carpal Tunnel Syndrome (CTS) 53
Median Lesion at the Elbow or Higher 53
3.4.2 Ulnar Neuropathy 53
3.4.3 Femoral Neuropathy 54
3.4.4 Peroneal Neuropathy 54
3.4.5 Tibial Neuropathy 54
3.4.6 Plexopathies 54
3.5 Polyneuropathies 54
3.6 Myopathies 55
References 55
4: Chronic Pain in Neuromuscular Disease 57
4.1 Introduction 57
4.2 Clinical Approach and Treatments to Neuropathic Pain 57
4.2.1 Diagnosis 57
4.2.2 Common Patterns of Peripheral Neuropathic Pain 58
4.2.3 Pharmacological Treatments Options 59
4.2.4 Neurosurgical Treatment Options 61
References 61
5: Cranial Nerve 62
5.1 Introduction 62
5.2 Olfactory Nerve 62
5.3 Optic Nerve 63
5.4 Oculomotor Nerve 64
5.5 Trochlear Nerve 67
5.6 Trigeminal Nerve 68
5.7 Abducens Nerve 73
5.8 Facial Nerve 74
5.9 Acoustic Nerve 77
5.10 Vestibular Nerve 78
5.11 Glossopharyngeal Nerve 79
5.12 Vagus Nerve 80
5.13 Accessory Nerve 81
5.14 Hypoglossal Nerve 83
5.15 Oral Cavity 84
5.15.1 Ventral Part and Closure 85
5.15.2 Middle Part, Oral Cavity and Tongue 85
5.15.3 Posterior Part, Gag and Swallowing 85
5.16 Cranial Nerves and Painful Conditions: A Checklist 86
5.17 Cranial Nerve Examination in Coma 86
5.18 Pupil 87
5.19 Multiple and Combined Oculomotor Nerve Palsies 88
References 89
6: Radiculopathies 91
6.1 Cervical Radicular Symptoms 91
6.1.1 Anatomy 91
6.1.2 Symptoms 91
6.1.3 Signs 93
6.1.4 Pathogenesis 93
6.1.5 Diagnosis 94
6.1.6 Differential Diagnosis 94
6.1.7 Treatment 94
6.1.8 Prognosis 94
6.2 Thoracic Radicular Nerves 94
6.2.1 Anatomy 95
6.2.2 Symptoms 96
6.2.3 Signs 96
6.2.4 Pathogenesis 96
6.2.5 Diagnosis 97
6.2.6 Differential Diagnosis 97
6.2.7 Therapy 97
6.2.8 Prognosis 97
6.3 Lumbar and Sacral Radiculopathy 97
6.3.1 Anatomy 98
6.3.2 Symptoms 98
6.3.3 Signs 99
6.3.4 Pathogenesis 99
6.3.5 Diagnosis 101
6.3.6 Differential Diagnosis 101
6.3.7 Therapy 101
6.3.8 Prognosis 102
6.4 Cauda Equina 102
6.4.1 Anatomy 102
6.4.2 Symptoms 103
6.4.3 Signs 103
6.4.4 Pathogenesis 103
6.4.5 Diagnosis 103
6.4.6 Differential Diagnosis 103
6.4.7 Therapy 103
References 103
Thoracic 104
Lumbar 104
Cauda 104
7: Plexopathies 105
7.1 Cervical Plexus and Cervical Spinal Nerves 105
7.1.1 Anatomy 105
7.1.2 Clinical Picture 105
7.1.3 Symptoms 105
7.1.4 Pathogenesis 105
7.1.5 Diagnosis 106
7.1.6 Differential Diagnosis 106
7.1.7 Therapy 106
7.2 Brachial Plexus 106
7.2.1 Anatomy 106
7.2.2 Lesions of the Brachial Plexus (Fig.  7.2) 107
7.2.3 Symptoms 107
7.2.4 Signs 107
7.2.5 Pathogenesis 108
7.2.6 Diagnosis of Brachial Plexus Lesions 114
7.2.7 Differential Diagnosis 114
7.2.8 Therapy 115
7.2.9 Prognosis 116
7.3 Thoracic Outlet Syndromes 116
7.3.1 True Neurogenic TOS 116
7.3.2 Arterial TOS 116
7.3.3 Venous TOS 117
7.3.4 Disputed Neurogenic TOS 117
7.3.5 Others 117
7.4 Lumbosacral Plexus 117
7.4.1 Anatomy 117
7.4.2 Symptoms 119
7.4.3 Signs 119
7.4.4 Pathogenesis 119
7.4.5 Diagnosis 122
7.4.6 Differential Diagnosis 122
7.4.7 Therapy 122
7.4.8 Prognosis 122
References 122
8: Mononeuropathies 124
8.1 Introduction 124
8.2 Mononeuropathies: Upper Extremities 124
8.2.1 Axillary Nerve 124
Anatomy 124
Symptoms 124
Signs 125
Causes 125
Diagnosis 125
Differential Diagnosis 125
Therapy 125
Prognosis 125
8.2.2 Musculocutaneous Nerve 126
Anatomy 126
Symptoms 126
Signs 126
Causes 128
Diagnosis 128
Differential Diagnosis 128
Therapy 128
Prognosis 128
8.2.3 Nerves Around the Elbow 128
Nerves Traversing 129
Muscles 129
Sensory Innervation 129
Lesions at the Elbow 129
8.2.4 Median Nerve 129
Anatomy 129
Anomalies 130
Clinical Syndrome (Topographical Order) 130
Causes 133
Diagnosis 134
Differential Diagnosis 134
Therapy 135
8.2.5 Ulnar Nerve 137
Anatomy 137
Symptoms 138
Signs 138
Causes 139
Diagnosis 139
Differential Diagnosis 141
Therapy 142
Prognosis 143
8.2.6 Radial Nerve 143
Anatomy 143
Clinical Syndrome 143
Axilla 143
Upper Arm 145
Forearm 145
Diagnosis 147
Differential Diagnosis 147
Therapy and Management 147
8.2.7 Cutaneous Forearm Nerves 147
Nervus Cutaneus Antebrachii Lateralis 147
Nervus Cutaneus Antebrachii Medialis 148
Posterior Cutaneous Nerve of Forearm 148
8.2.8 Digital Nerves of the Hand 149
Symptoms 149
Signs 149
Causes 149
Diagnosis 149
Therapy 149
8.3 Truncal Mononeuropathies 150
8.3.1 Phrenic Nerve 150
Anatomy 150
Symptoms 150
Frequent Sites of Lesion 150
Causes 150
Diagnosis 150
Differential Diagnosis 152
Therapy 152
8.3.2 Dorsal Scapular Nerve 153
Anatomy 153
Symptoms 153
Signs 153
Pathogenesis 153
Diagnosis 153
Therapy 153
Prognosis 153
8.3.3 Suprascapular Nerve 153
Anatomy 153
Symptoms 154
Signs 154
Causes 154
Diagnosis 154
Differential Diagnosis 154
Therapy 154
Prognosis 154
8.3.4 Subscapular Nerve (Inferior Scapular Nerve) 154
Anatomy 154
Symptoms 154
Signs 154
Pathogenesis 154
Diagnosis 154
Differential Diagnosis 155
Therapy 155
8.3.5 Long Thoracic Nerve 155
Anatomy 155
Symptoms 155
Signs 155
Pathogenesis 155
Diagnosis 156
Differential Diagnosis 156
Therapy 156
Prognosis 156
8.3.6 Thoracodorsal Nerve 156
Anatomy 156
Symptoms 156
Signs 156
Causes 156
Diagnosis 156
Differential Diagnosis 156
Therapy 156
Prognosis 157
8.3.7 Innervation of the Shoulder 157
Complex Structure and Function 157
Neuronal Structures Passing Through the Shoulder 157
Muscle 158
Sensory Innervation Including the Joints 158
The Quadrilateral Space Syndrome 158
Nerve Entrapment Syndromes 158
Rotator Cuff Tears and Nerve Injuries 158
Shoulder Impingement Syndrome 159
Scapular Winging 159
8.3.8 Pectoral Nerve 160
Anatomy 160
Function 160
Symptoms 160
Signs 160
Causes 160
Therapy 160
Muscle Transfer 162
8.3.9 Thoracic Spinal Nerves 162
Anatomy 162
Symptoms 162
Signs 162
Pathogenesis 162
Diagnosis 162
Differential Diagnosis 162
Therapy 162
8.3.10 Intercostal Nerves 162
Anatomy 162
Symptoms 163
Signs 163
Site of the Lesion 163
Pathogenesis 163
Diagnosis 163
Differential Diagnosis 163
Therapy 163
Prognosis 163
8.3.11 Intercostobrachial Nerve 163
Anatomy 163
Symptoms 163
Signs 163
Causes 163
Diagnosis 163
Differential Diagnosis 164
8.3.12 Around the Breast 164
Postmastectomy Syndrome (PMS) 164
Intercostobrachial Nerve 164
Scar Pain and Neuroma 164
Phantom Pain 164
Latissimus Dorsi Flap 164
Male Gynecomastia 164
8.3.13 Abdominal Walls and Their Innervation 164
Muscular Innervation of the Abdominal Cavity 164
Anterior Abdominal Wall Muscles and Innervation 165
Posterior Wall 166
Upper Cupula: Diaphragm 166
Lower Cupula 166
Rectus Abdominis 166
External Oblique Muscle 166
Internal Oblique Muscle 166
Transverse Abdominal Muscle 166
Posterior Abdominal Wall 166
Rostral Cupula 167
Nerves Involved 167
Muscular Components 167
Fasica 168
8.3.14 Iliohypogastric Nerve 168
Anatomy 168
Symptoms 168
Signs 168
Sites of Lesion 168
Causes 168
Diagnosis 168
Differential Diagnosis 168
Therapy 168
8.3.15 Ilioinguinal Nerve 168
Anatomy 168
Clinical Syndrome 169
Signs 169
Causes 169
Diagnosis 169
Therapy 169
Differential Diagnosis 169
8.3.16 Genitofemoral Nerve 170
Anatomy 170
Symptoms 170
Signs 170
Causes 171
Diagnosis 171
Differential Diagnosis 171
Therapy 171
Prognosis 171
8.3.17 Superior and Inferior Gluteal Nerves 171
Anatomy 171
Symptoms and Signs 171
Pathogenesis 171
Diagnosis 171
Differential Diagnosis 171
Therapy/Prognosis 171
8.3.18 Pudendal Nerve 172
Anatomy 172
Symptoms and Signs 172
Causes 172
Differential Diagnosis 172
Diagnosis 172
8.4 Mononeuropathies: Lower Extremities 174
8.4.1 Obturator Nerve 174
Anatomy 174
Symptoms 174
Signs 175
Causes 175
Diagnosis 175
Differential Diagnosis 175
Therapy 175
Prognosis 175
8.4.2 Neurology and the Hip 175
Hip and Neuromuscular Disease 175
Hip Trauma 176
Hip Arthroplasty 176
Hip Arthroscopy 176
Local Pain Syndromes 176
8.4.3 Femoral Nerve 176
Anatomy 176
Symptoms 176
Signs 176
Causes 177
Diagnosis 177
Differential Diagnosis 177
Therapy 177
Prognosis 177
The Hip 177
8.4.4 Saphenous Nerve 178
Anatomy 178
Symptoms 178
Signs 178
Anatomical Sites 178
Causes 178
Diagnosis 178
Differential Diagnosis 178
8.4.5 Lateral Femoral Cutaneous Nerve 178
Anatomy 178
Symptoms 179
Signs 179
Pathogenesis 179
Diagnosis 179
Differential Diagnosis 179
Therapy 179
Prognosis 179
8.4.6 Posterior Cutaneous Femoral Nerve 180
Anatomy 180
Symptoms 181
Signs 181
Pathogenesis 181
Diagnosis 181
Differential Diagnosis 181
Therapy 181
Prognosis 181
8.4.7 Sciatic Nerve 181
Anatomy 181
Symptoms 181
Signs 182
Causes 182
Diagnosis 182
Differential Diagnosis 185
Therapy and Prognosis 185
8.4.8 Around the Knee 185
8.4.9 Peroneal Nerve 186
Anatomy 186
Symptoms 186
Signs 186
Causes 186
Diagnosis 188
Differential Diagnosis 188
Therapy 188
Prognosis 188
8.4.10 Tibial Nerve (Posterior Tibial Nerve) 189
Anatomy 189
Symptoms 189
Signs 190
Causes 190
Diagnosis 191
Differential Diagnosis 192
Therapy 192
Prognosis 193
8.4.11 Sural Nerve 193
Anatomy 193
Symptoms 193
Signs 193
Pathogenesis of Sural Nerve Lesions 193
Diagnosis 194
Differential Diagnosis 194
Therapy 194
Prognosis 194
8.4.12 Posterior Tarsal Tunnel Syndrome 194
Anatomy/Distribution 194
Symptoms 194
Signs 194
Pathogenesis 194
Differential Diagnosis 195
Diagnosis 195
Therapy 195
8.4.13 Anterior Tarsal Tunnel Syndrome 195
Symptoms 195
Signs 195
Causes 195
Therapy 195
Electrophysiology 195
Differential Diagnosis 195
8.4.14 Interdigital Neuroma and Neuritis 196
Anatomy 196
Symptoms 196
Clinical Syndrome 196
Causes 196
Diagnosis 196
Differential Diagnosis 197
Therapy 197
Prognosis 197
8.4.15 Nerves of the Foot 197
Joplin’s Neuroma or Medial Plantar Proper Digital Nerve Syndrome 197
Anatomy 197
Symptoms 197
Signs 197
Causes 197
Diagnosis 197
Differential Diagnosis 197
Therapy 197
Calcaneal Nerves 198
Anatomy 198
Symptoms 198
Causes 198
Differential Diagnosis 198
Plantar Nerves (Medial and Lateral) 198
Medial Plantar Nerve 198
Proper Digital Nerve of the Great Toe 198
Medial Plantar Proper Digital Nerve (Joplin’s Neuroma) 198
Three Common Digital Nerves 198
Lateral Plantar Nerve (External Plantar Nerve) (Fig.  8.93) 198
Interdigital Nerves (Morton’s Metatarsalgia) 199
Dorsum of the Foot 199
Medial Malleolus 199
8.4.16 Peripheral Nerve Tumors 199
Benign Tumors 200
Tumor-Like Disorders 201
Malignant Peripheral Nerve Tumors 201
Involvement of Peripheral Nerves in Cancer 201
References 204
Upper Extremities 204
Truncal Mononeuropathies 205
Lower Extremities 205
Peripheral Nerve Tumors 207
9: Polyneuropathies 208
9.1 Introduction 208
9.1.1 Anatomical Distribution 208
9.1.2 Clinical Syndrome 208
9.2 Metabolic Diseases 210
9.2.1 Diabetic Distal Symmetric Polyneuropathy 210
Distribution/Anatomy 210
Symptoms 210
Clinical Syndrome/Signs 210
Pathogenesis 210
Diagnosis 210
Differential Diagnosis 211
Therapy 211
Prognosis 212
9.2.2 Diabetic Autonomic Neuropathy 212
Distribution/Anatomy 212
Symptoms 212
Clinical Syndrome/Signs 212
Pathogenesis 212
Diagnosis 212
Differential Diagnosis 212
Therapy 212
Prognosis 212
9.2.3 Diabetic Mononeuritis Multiplex and Diabetic Polyradiculopathy (Amyotrophy) 212
Anatomy 213
Symptoms 213
Clinical Syndrome/Signs 213
Pathogenesis 213
Diagnosis 213
Therapy 213
Prognosis 213
9.2.4 Distal Symmetric Polyneuropathy of Renal Disease 213
Anatomy 213
Symptoms 213
Clinical Syndrome/Signs 213
Pathogenesis 213
Diagnosis 214
Differential Diagnosis 214
Therapy 214
Prognosis 214
9.3 Systemic Diseases 214
9.3.1 Amyloid Neuropathies 214
Epidemiology 214
Anatomy and Pathophysiology 214
Symptoms 214
Signs 214
Causes 215
Diagnosis 215
Differential Diagnosis 215
Therapy 215
9.4 Neuropathies Associated with Paraproteinemias 215
9.4.1 Multiple Myeloma Neuropathy 215
Anatomy/Distribution 215
Symptoms 216
Clinical Syndrome/Signs 216
Diagnosis 216
Differential Diagnosis 216
Therapy 216
9.4.2 Monoclonal Gammopathy of Undetermined Significance (MGUS) 216
Symptoms 216
Clinical Syndrome/Signs 216
Pathogenesis 216
Diagnosis 216
Differential Diagnosis 216
Therapy 216
IgM Paraproteinemia with Anti-MAG Antibodies 216
9.4.3 Waldenström’s Macroglobulinemia 216
Symptoms 216
Signs 216
Pathogenesis 216
Diagnosis 216
Therapy 216
Prognosis 216
9.4.4 Osteosclerotic Myeloma (POEMS Syndrome) 216
9.4.5 Vasculitic Neuropathy, Nonsystemic 217
Distribution/Anatomy 217
Symptoms 217
Clinical Syndrome/Signs 217
Diagnosis 217
Differential Diagnosis 217
Therapy 217
Prognosis 217
9.4.6 Vasculitic Neuropathy, Systemic 217
Distribution/Anatomy 218
Symptoms 218
Clinical Syndrome/Signs 218
Pathogenesis 218
Diagnosis 218
Differential Diagnosis 219
Therapy 219
Prognosis 219
9.4.7 Critical Illness Neuropathy (CIP) 219
Anatomy/Distribution 219
Symptoms 219
Clinical Syndrome/Signs 219
Pathogenesis 219
Diagnosis 220
Differential Diagnosis 220
Therapy 220
Prognosis 220
9.5 Infectious Neuropathies 220
9.5.1 Human Immunodeficiency Virus-1 Neuropathy 220
Epidemiology 220
Anatomy and Pathophysiology 220
Symptoms 220
Signs 220
Causes 220
Diagnosis 220
Differential Diagnosis 221
Therapy 221
9.5.2 Herpes Zoster Neuropathy 221
Epidemiology 221
Anatomy and Pathophysiology 221
Symptoms 221
Signs 221
Causes 221
Diagnosis 221
Differential Diagnosis 221
Therapy 221
9.5.3 Lyme Disease (Neuroborreliosis) 221
Epidemiology 221
Anatomy and Pathophysiology 222
Symptoms 222
Signs 222
Causes 222
Diagnosis 222
Differential Diagnosis 223
Therapy 223
9.5.4 Leprosy 223
Epidemiology 223
Anatomy and Pathophysiology 223
Symptoms 223
Signs 223
Causes 223
Diagnosis 223
Differential Diagnosis 223
Therapy 223
9.6 Inflammatory Neuropathies 224
9.6.1 Acute Inflammatory Demyelinating Polyneuropathy (AIDP, Guillain–Barre Syndrome) 224
Distribution/Anatomy 224
Symptoms 224
Clinical Syndrome/Signs 224
Pathogenesis 224
Diagnosis 224
Differential Diagnosis 224
Therapy 224
Prognosis 224
9.6.2 Acute Motor Axonal Neuropathy 224
Anatomy/Distribution 224
Symptoms 224
Clinical Syndrome/Signs 225
Pathogenesis 225
Diagnosis 225
Therapy 225
Prognosis 225
9.6.3 Acute Motor and Sensory Axonal Neuropathy 226
Anatomy/Distribution 226
Symptoms 226
Clinical Syndrome/Signs 226
Pathogenesis 226
Diagnosis 226
Therapy 226
Prognosis 226
9.6.4 Miller Fisher Syndrome (MFS) 226
Anatomy/Distribution 227
Symptoms 227
Signs 227
Pathogenesis 227
Diagnosis 227
Differential Diagnosis 227
Therapy 227
Prognosis 227
9.6.5 Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) 227
Anatomy/Distribution 227
Symptoms 227
Clinical Syndrome/Signs 227
Pathogenesis 228
Diagnosis 228
Differential Diagnosis 228
Therapy 228
Prognosis 229
9.6.6 Demyelinating Neuropathy Associated with Anti-MAG Antibodies 229
Anatomy/Distribution 229
Symptoms 229
Clinical Syndrome/Signs 229
Pathogenesis 229
Diagnosis 229
Therapy 229
Prognosis 229
9.6.7 Multifocal Motor Neuropathy (MMN) 229
Anatomy/Distribution 229
Symptoms 229
Clinical Syndrome/Signs 229
Pathogenesis 229
Diagnosis 229
Differential Diagnosis 229
Therapy 229
Prognosis 230
9.7 Nutritional Neuropathies 230
9.7.1 Cobalamin Neuropathy 230
Anatomy/Distribution 230
Symptoms 230
Clinical Syndrome/Signs 230
Pathogenesis 230
Diagnosis 230
Differential Diagnosis 230
Therapy 230
Prognosis 230
9.7.2 Post-gastroplasty Neuropathy 230
Anatomy/Distribution 230
Symptoms 230
Clinical Syndrome/Signs 230
Pathogenesis 230
Therapy 230
Prognosis 230
9.7.3 Pyridoxine Neuropathy 231
Anatomy/Distribution 231
Symptoms 231
Clinical Syndrome/Signs 231
Pathogenesis 231
Diagnosis 231
Differential Diagnosis 231
Therapy 231
Prognosis 231
9.7.4 Strachan’s Syndrome 231
Anatomy/Distribution 231
Symptoms 231
Clinical Syndrome/Signs 231
Pathogenesis 231
Therapy 231
Prognosis 231
9.7.5 Thiamine Neuropathy 231
Anatomy/Distribution 231
Symptoms 231
Clinical Syndrome/Signs 232
Pathogenesis 232
Diagnosis 232
Differential Diagnosis 232
Therapy 232
Prognosis 232
9.7.6 Tocopherol Neuropathy 232
Anatomy/Distribution 232
Symptoms 232
Clinical Syndrome/Signs 232
Pathogenesis 232
Diagnosis 232
Differential Diagnosis 232
Therapy 232
Prognosis 232
9.8 Drugs, Industrial Agents, and Metals 232
9.8.1 Alcohol Polyneuropathy 232
Symptoms 233
Signs 233
Causes 233
Pathophysiology 233
Diagnosis 233
Differential Diagnosis 233
Therapy 233
Prognosis 233
9.8.2 Other Drug-Induced Neuropathies 233
Epidemiology 233
Anatomy and Pathophysiology 233
Symptoms 233
Signs 233
Causes 233
Diagnosis 233
Differential Diagnosis 235
Therapy 235
9.8.3 Toxic Neuropathies: Industrial Agents 235
Epidemiology 235
Anatomy and Pathophysiology 235
Symptoms 236
Signs 236
Causes 236
Diagnosis 236
Differential Diagnosis 236
Therapy 236
9.8.4 Toxic Neuropathies: Metals 236
Epidemiology 236
Anatomy and Pathophysiology 236
Symptoms 236
Signs 236
Causes 236
Diagnosis 236
Differential Diagnosis 236
Therapy 236
9.9 Hereditary Neuropathies 237
9.9.1 Hereditary Motor and Sensory Neuropathies: Charcot-Marie-Tooth Disease 237
Epidemiology 237
Anatomy and Pathophysiology 238
Symptoms 238
Signs 238
Causes 238
Diagnosis 238
Differential Diagnosis 238
Therapy 240
9.9.2 Other Hereditary Motor and Sensory Neuropathies 240
Epidemiology 242
Anatomy and Pathophysiology 242
Symptoms 242
Signs 243
Causes 243
Diagnosis 243
Differential Diagnosis 243
Therapy 244
9.9.3 Porphyria 244
Anatomy/Distribution 244
Symptoms 244
Clinical Syndrome/Signs 244
Pathogenesis 244
Diagnosis 244
Differential Diagnosis 244
Therapy 244
Prognosis 244
9.10 Cancer and Neuropathy 244
9.10.1 Paraneoplastic Neuropathies 244
Anatomy/Distribution 244
Symptoms 245
Clinical Syndrome 246
Signs 246
Pathogenesis 246
Diagnosis 246
Differential Diagnosis 247
Therapy 247
9.10.2 Motor Neuropathy or Motor Neuron Disease Syndrome 247
Anatomy/Distribution 247
Symptoms 247
Clinical Syndrome/Signs 247
Pathogenesis 247
Diagnosis 247
Differential Diagnosis 247
Therapy 247
Prognosis 247
9.10.3 Neuropathies and Neuromyopathies 247
9.10.4 Neuropathies in Lymphoma and Leukemia 247
Anatomy/Distribution 248
Symptoms 248
Diagnosis 248
Therapy 248
9.10.5 Neoplastic Neuropathies 248
Anatomy 248
Symptoms 248
Clinical Syndrome/Signs 248
Diagnosis 248
Therapy 249
Prognosis 249
9.10.6 Polyneuropathy and Chemotherapy 249
Pathogenesis 249
Clinical Distribution 249
Symptoms 249
Signs 250
Drugs Used for Chemotherapy 250
Platinum Compounds 250
Taxanes 250
Proteasome Inhibitors 250
Thalidomide and Lenalidomide 251
CIPN 251
References 251
10: Neuromuscular Transmission: Endplate Disorders 252
10.1 Myasthenia Gravis 252
10.1.1 Epidemiology 252
10.1.2 Anatomy and Pathophysiology 252
10.1.3 Symptoms 252
10.1.4 Signs 252
10.1.5 Myasthenic Crisis 252
10.1.6 Causes 252
10.1.7 Electrophysiology 255
10.1.8 Imaging (MR, CT Scan) 255
10.1.9 Laboratory 255
10.1.10 Diagnosis 256
10.1.11 Differential Diagnosis 256
10.1.12 Medication and Myasthenia 256
10.1.13 Therapy 256
10.1.14 Myasthenia and Pregnancy 257
10.1.15 Prognosis 258
10.2 Congenital Myasthenic Syndromes 258
10.3 Lambert-Eaton Myasthenic Syndrome (LEMS) 258
10.3.1 Epidemiology 258
10.3.2 Anatomy and Pathophysiology 258
10.3.3 Symptoms 259
10.3.4 Signs 259
10.3.5 Causes 259
10.3.6 Electrophysiology 259
10.3.7 Imaging 259
10.3.8 Laboratory 260
10.3.9 Diagnosis 260
10.3.10 Differential Diagnosis 260
10.3.11 Therapy 260
10.3.12 Prognosis 260
10.4 Botulism 260
10.4.1 Epidemiology 260
10.4.2 Anatomy and Pathophysiology 260
10.4.3 Symptoms 260
10.4.4 Signs 260
10.4.5 Causes 260
10.4.6 Electrophysiology 260
10.4.7 Imaging 261
10.4.8 Laboratory 261
10.4.9 Diagnosis 261
10.4.10 Differential Diagnosis 261
10.4.11 Therapy 261
10.4.12 Prognosis 261
10.5 Neuromyotonia (Isaacs’ Syndrome) 261
10.5.1 Epidemiology 261
10.5.2 Anatomy and Pathophysiology 261
10.5.3 Symptoms 261
10.5.4 Signs 261
10.5.5 Causes 261
10.5.6 Electrophysiology 261
10.5.7 Imaging 262
10.5.8 Laboratory 262
10.5.9 Diagnosis 262
10.5.10 Differential Diagnosis 262
10.5.11 Therapy 262
10.5.12 Prognosis 262
References 262
Myasthenia Gravis 262
Congenital Myasthenic Syndromes 262
Lambert-Eaton Myasthenic Syndrome (LEMS) 262
Botulism 263
Neuromyotonia (Isaacs’ Syndrome) 263
11: Muscle and Myotonic Diseases 264
11.1 Introduction 264
11.1.1 Electrophysiology 264
11.1.2 Muscle Histology and Immunohistochemistry 264
11.1.3 Regulation of Gene Defects in Muscle 265
11.2 Polymyositis (PM) and Dermatomyositis (DM) 265
11.2.1 Distribution 265
11.2.2 Clinical Syndrome 265
11.2.3 Pathogenesis 265
11.2.4 Diagnosis 265
11.2.5 Differential Diagnosis 266
11.2.6 Therapy 266
11.2.7 Prognosis 267
11.3 Inclusion Body Myositis (IBM) 267
11.3.1 Distribution 267
11.3.2 Clinical Description 267
11.3.3 Pathogenesis 267
11.3.4 Diagnosis 267
11.3.5 Differential Diagnosis 267
11.3.6 Therapy 268
11.3.7 Prognosis 268
11.4 Immune-Mediated Necrotizing Myopathy (IMNM) 268
11.4.1 Distribution 268
11.4.2 Clinical Syndrome 268
11.4.3 Pathogenesis 268
11.4.4 Diagnosis 268
11.4.5 Differential Diagnosis 269
11.4.6 Treatment 269
11.4.7 Prognosis 269
11.5 Connective Tissue Diseases (CTDs) in “Overlap” Myositis 269
11.5.1 Distribution/Anatomy 269
11.5.2 Clinical Syndrome 269
11.5.3 Pathogenesis 269
11.5.4 Diagnosis 270
11.5.5 Differential Diagnosis 270
11.5.6 Therapy 270
11.5.7 Prognosis 271
11.6 Viral Myopathies 271
11.6.1 Distribution/Anatomy 271
11.6.2 Clinical Syndrome 271
11.6.3 Pathogenesis 271
11.6.4 Diagnosis 271
11.6.5 Differential Diagnosis 271
11.6.6 Therapy 271
11.6.7 Prognosis 272
11.7 Duchenne Muscular Dystrophy 272
11.7.1 Distribution 272
11.7.2 Clinical Syndrome 272
11.7.3 Pathogenesis 272
11.7.4 Diagnosis 273
11.7.5 Differential Diagnosis 273
11.7.6 Therapy 273
11.7.7 Prognosis 274
11.8 Becker Muscular Dystrophy 274
11.8.1 Distribution/Anatomy 274
11.8.2 Clinical Syndrome 274
11.8.3 Pathogenesis 274
11.8.4 Diagnosis 274
11.8.5 Differential Diagnosis 274
11.8.6 Therapy 275
11.8.7 Prognosis 275
11.9 Myotonic Dystrophy (DM) 275
11.9.1 Distribution/Anatomy 275
11.9.2 Clinical Syndrome 275
11.9.3 Pathogenesis 275
11.9.4 Diagnosis 275
11.9.5 Differential Diagnosis 276
11.9.6 Therapy 276
11.9.7 Prognosis 276
11.10 Limb-Girdle Muscular Dystrophy (LGMD) 276
11.10.1 Distribution 276
11.10.2 Clinical Syndrome 276
11.10.3 Pathogenesis 277
11.10.4 Diagnosis 277
11.10.5 Differential Diagnosis 278
11.10.6 Therapy 278
11.10.7 Prognosis 278
11.11 Oculopharyngeal Muscular Dystrophy (OPMD) 278
11.11.1 Distribution 278
11.11.2 Clinical Syndrome 278
11.11.3 Pathogenesis 278
11.11.4 Diagnosis 278
11.11.5 Differential Diagnosis 279
11.11.6 Therapy 279
11.11.7 Prognosis 279
11.12 Facioscapulohumeral Muscular Dystrophy (FSHD) 279
11.12.1 Distribution 279
11.12.2 Clinical Syndrome 279
11.12.3 Pathogenesis 281
11.12.4 Diagnosis 281
11.12.5 Differential Diagnosis 281
11.12.6 Therapy 281
11.12.7 Prognosis 281
11.13 Distal Myopathies 281
11.13.1 Distribution 281
11.13.2 Clinical Syndrome 281
11.13.3 Pathogenesis 281
11.13.4 Diagnosis 281
11.13.5 Differential Diagnosis 282
11.13.6 Therapy 282
11.13.7 Prognosis 282
11.14 Congenital Myopathies 282
11.14.1 Distribution/Anatomy 282
11.14.2 Clinical Syndrome 282
11.14.3 Pathogenesis 283
11.14.4 Diagnosis 283
11.14.5 Differential Diagnosis 284
11.14.6 Therapy 284
11.14.7 Prognosis 285
11.15 Mitochondrial Myopathies 285
11.15.1 Distribution/Anatomy 285
11.15.2 Clinical Syndrome 285
11.15.3 Pathogenesis 285
11.15.4 Diagnosis 285
11.15.5 Differential Diagnosis 285
11.15.6 Therapy 285
11.15.7 Prognosis 285
11.16 Glycogen Storage Diseases 286
11.16.1 Distribution 286
11.16.2 Clinical Syndrome 286
11.16.3 Pathogenesis 286
11.16.4 Diagnosis 286
11.16.5 Differential Diagnosis 288
11.16.6 Therapy 288
11.16.7 Prognosis 288
11.17 Defects of Fatty Acid Metabolism 288
11.17.1 Distribution 288
11.17.2 Clinical Syndrome 288
11.17.3 Pathogenesis 288
11.17.4 Diagnosis 289
11.17.5 Differential Diagnosis 289
11.17.6 Therapy 289
11.17.7 Prognosis 289
11.18 Toxic Myopathies 289
11.18.1 Distribution/Anatomy 289
11.18.2 Clinical Syndrome 289
11.18.3 Pathogenesis 290
11.18.4 Diagnosis 290
11.18.5 Differential Diagnosis 290
11.18.6 Therapy 290
11.18.7 Prognosis 291
11.19 Critical Illness Myopathy 291
11.19.1 Distribution/Anatomy 291
11.19.2 Clinical Syndrome 291
11.19.3 Pathogenesis 291
11.19.4 Diagnosis 291
11.19.5 Differential Diagnosis 291
11.19.6 Therapy 291
11.19.7 Prognosis 291
11.20 Myopathies Associated with Endocrine/Metabolic Disorders and Carcinoma 291
11.20.1 Distribution/Anatomy 291
11.20.2 Clinical Syndrome 291
11.20.3 Pathogenesis 292
11.20.4 Diagnosis 292
11.20.5 Differential Diagnosis 292
11.20.6 Therapy 292
11.20.7 Prognosis 292
11.21 Myotonia Congenita 292
11.21.1 Distribution/Anatomy 292
11.21.2 Clinical Syndrome 292
11.21.3 Pathogenesis 293
11.21.4 Diagnosis 293
11.21.5 Differential Diagnosis 293
11.21.6 Therapy 293
11.21.7 Prognosis 294
11.22 Paramyotonia Congenita 294
11.22.1 Distribution 294
11.22.2 Clinical Syndrome 294
11.22.3 Pathogenesis 294
11.22.4 Diagnosis 294
11.22.5 Differential Diagnosis 294
11.22.6 Therapy 294
11.22.7 Prognosis 295
11.23 Hyperkalemic Periodic Paralysis (HyPP) 295
11.23.1 Distribution 295
11.23.2 Clinical Syndrome 295
11.23.3 Pathogenesis 295
11.23.4 Diagnosis 295
11.23.5 Differential Diagnosis 295
11.23.6 Treatment 295
11.23.7 Prognosis 295
11.24 Hypokalemic Periodic Paralysis (HoPP) 296
11.24.1 Distribution 296
11.24.2 Clinical Syndrome 296
11.24.3 Pathogenesis 296
11.24.4 Diagnosis 296
11.24.5 Differential Diagnosis 296
11.24.6 Therapy 296
11.24.7 Prognosis 296
References 297
Polymyositis (PM) and Dermatomyositis (DM) 297
Inclusion Body Myositis (IBM) 297
Immune-Mediated Necrotizing Myopathy (IMNM) 297
Connective Tissue Diseases (CTDs) in “Overlap” Myositis 297
Viral Myopathies 297
Duchenne Muscular Dystrophy 297
Becker Muscular Dystrophy 297
Myotonic Dystrophy (DM) 297
Limb-Girdle Muscular Dystrophy (LGMD) 297
Oculopharyngeal Muscular Dystrophy (OPMD) 297
Facioscapulohumeral Muscular Dystrophy (FSHD) 297
Distal Myopathies 297
Congenital Myopathies 298
Mitochondrial Myopathies 298
Glycogen Storage Diseases 298
Defects of Fatty Acid Metabolism 298
Toxic Myopathies 298
Critical Illness Myopathy 298
Myopathies Associated with Endocrine/Metabolic Disorders and Carcinoma 298
Myotonia Congenita 298
Paramyotonia Congenita 298
Hyperkalemic Periodic Paralysis (HyPP) 298
Hypokalemic Periodic Paralysis (HoPP) 298
12: Motor Neuron Diseases 299
12.1 Amyotrophic Lateral Sclerosis 299
12.1.1 Epidemiology 299
12.1.2 Anatomy and Pathophysiology 299
12.1.3 Symptoms 299
12.1.4 Signs 299
12.1.5 Causes 300
12.1.6 Diagnosis 300
12.1.7 Differential Diagnosis 301
12.1.8 Therapy 301
12.2 Spinal and Bulbar Muscular Atrophy (SBMA, Kennedy Syndrome) 301
12.2.1 Epidemiology 301
12.2.2 Anatomy and Pathophysiology 301
12.2.3 Symptoms 301
12.2.4 Signs 301
12.2.5 Causes 301
12.2.6 Diagnosis 302
12.2.7 Differential Diagnosis 302
12.2.8 Therapy 302
12.3 Spinal Muscular Atrophies (SMA) 302
12.3.1 Epidemiology 302
12.3.2 Anatomy and Pathophysiology 302
12.3.3 Symptoms 302
12.3.4 Signs 302
12.3.5 Causes 302
12.3.6 Diagnosis 303
12.3.7 Differential Diagnosis 303
12.3.8 Therapy 303
12.4 Poliomyelitis and Post-Polio Syndrome (PPS) 303
12.4.1 Epidemiology 304
12.4.2 Anatomy and Pathophysiology 304
12.4.3 Symptoms 304
12.4.4 Signs 304
12.4.5 Causes 305
12.4.6 Diagnosis 305
12.4.7 Differential Diagnosis 306
12.4.8 Therapy 306
References 306
Amyotrophic Lateral Sclerosis 306
Spinal and Bulbar Muscular Atrophy (SBMA, Kennedy Syndrome) 306
Spinal Muscular Atrophies (SMA) 306
Poliomyelitis and Post-Polio Syndrome (PPS) 306
13: Autonomic Nervous System 307
13.1 Introduction 307
13.2 Anatomy 307
13.2.1 Autonomic CNS Structures 307
13.2.2 Sympathetic Nervous System 307
13.2.3 Parasympathetic Nervous System 308
13.2.4 Enteric Nervous System 308
13.3 History Taking and Bedside Tests 308
13.4 Autonomic Testing 308
13.4.1 Cardiovascular Reflex Tests 308
Deep Breathing 309
Valsalva Maneuver 309
Tilt Table 309
13.4.2 Sudomotor Tests 310
13.5 Autonomic Syndromes 310
13.5.1 Orthostatic Hypotension (OH) 310
Red Flags in History 311
13.5.2 Diabetic Autonomic Neuropathy 312
13.5.3 Reflex Syncope 312
13.5.4 Postural Orthostatic Tachycardia Syndrome (PoTS) 312
References 313
General Disease Finder 314
Index 326