Atlas of neuromuscular diseases : a practical guideline

Acknowledgments
Abbreviations
Contents
Contributors
1: Tools
	1.1	 New Developments in Neuromuscular Disease
	1.2	 The Patient with Neuromuscular Disease
	1.3	 History and General Physical Examination
	1.4	 Neuromuscular Clinical Phenomenology
		1.4.1	 Motor Function
		1.4.2	 Abnormal Muscle Movements
		1.4.3	 Reflex Testing
		1.4.4	 Muscle Tone
		1.4.5	 Sensory Symptoms
	1.5	 Sensory Qualities
		1.5.1	 Myalgia and Pain
		1.5.2	 Neuropathic Pain
		1.5.3	 Autonomic Function
		1.5.4	 Gait, Coordination
		1.5.5	 Clinical Pitfalls
	1.6	 NCV/EMG/Autonomic Testing and Miscellaneous Electrophysiology
		1.6.1	 Motor and Sensory NCV Studies
		1.6.2	 EMG
		1.6.3	 EMG Techniques
	1.7	 Laboratory Tests
		1.7.1	 Autoimmune Testing in Neuromuscular Transmission and Muscle Disorders
	1.8	 Genetic Testing (see Chap. 3)
	1.9	 Neuroimaging Techniques: MR and Ultrasound (see Chap. 2)
	1.10	 Tissue Diagnosis: Muscle/Nerve/Skin Biopsy
		1.10.1	 Nerve Biopsy
		1.10.2	 Muscle Biopsy
	1.11	 Neuromuscular Approaches to Quality of Life
	Further Readings
2: Imaging
	2.1	 Introduction
	2.2	 Ultrasound
		2.2.1	 What Can be Seen with Ultrasound
		2.2.2	 Pathological Patterns Identified by Ultrasound
		2.2.3	 Ultrasound Equipment
		2.2.4	 Safety and Contraindications of the Use of Ultrasound
		2.2.5	 Problems with Ultrasound
		2.2.6	 Ultrasound in Daily Clinical Practice
	2.3	 Magnetic Resonance Imaging
		2.3.1	 Equipment
		2.3.2	 Safety and Contraindications
		2.3.3	 MR Neurography
		2.3.4	 MRI of Skeletal Muscle
		2.3.5	 The Strengths of MRI in Imaging Neuromuscular Diseases
		2.3.6	 The Weaknesses of MRI in Imaging Neuromuscular Diseases
	2.4	 Computed Tomography
		2.4.1	 Safety and Contraindications
	2.5	 X-Ray Imaging
	References
3: Genetic Testing in Neuromuscular Diseases
	3.1	 Introduction
	3.2	 The Genetic Basis of Neuromuscular Diseases
	3.3	 Next-Generation Sequencing
		3.3.1	 Gene Panels
		3.3.2	 Exome Sequencing
		3.3.3	 Genome Sequencing
	3.4	 Interpretation of Genetic Testing Results
	3.5	 Diagnostic Reassessment and Periodic Data Reanalysis
	3.6	 Limitations of Genomic Testing
	3.7	 Secondary (Actionable) Findings
	3.8	 Conclusion and Future Perspectives
	References
4: New Neuromuscular Therapies
	4.1	 Introduction
	4.2	 New Treatment Strategies
		4.2.1	 ASOs
		4.2.2	 Exon-Skipping ASOs
		4.2.3	 RNA Interference Therapy
		4.2.4	 Genome Editing
		4.2.5	 Gene Replacement Therapy
		4.2.6	 Enzyme Replacement Therapy
		4.2.7	 Protein Expression/Activity Modulation
		4.2.8	 Antioxidant Therapies
		4.2.9	 Targeted Biologic Immunotherapies
	4.3	 Looking Ahead
	References
5: Principles of Peripheral Nerve Surgery
	5.1	 Defining the Problem
	5.2	 Timing of Nerve Repair
	5.3	 Restoration of Nerve Continuity
		5.3.1	 End-to-End Coaptation (Direct Nerve Repair)
		5.3.2	 Nerve Grafting
	5.4	 End-to-Side Coaptation
	5.5	 Nerve Transfer
	5.6	 Neurolysis
	5.7	 Conclusions
	References
		Further Readings
6: Principles of Nerve and Muscle Rehabilitation
	6.1	 Principles
	6.2	 Outcome Measurement
	6.3	 Rehabilitation Treatment
		6.3.1	 Exercise and Medical Training
		6.3.2	 Occupational Therapy and Splints
		6.3.3	 Orthotic Devices
		6.3.4	 Neural Plasticity
		6.3.5	 Surgery
		6.3.6	 Physical Interventions as a Part of Rehabilitation
		6.3.7	 Treatment Options for Autonomic Symptoms
	6.4	 Mononeuropathies
		6.4.1	 Median Neuropathy
		6.4.2	 Ulnar Neuropathy
		6.4.3	 Femoral Neuropathy
		6.4.4	 Peroneal Neuropathy
		6.4.5	 Tibial Neuropathy
		6.4.6	 Plexopathies
	6.5	 Polyneuropathies
	6.6	 Myopathies
	References
		Further Readings
7: Chronic Pain in Peripheral Neuropathy
	7.1	 Neuropathic Pain Mechanisms
	7.2	 Clinical Approach and Treatments to Neuropathic Pain
		7.2.1	 Diagnosis
		7.2.2	 Common Patterns of Peripheral Neuropathic Pain (Fig. 7.3)
		7.2.3	 Pharmacological Treatments Options
		7.2.4	 Opioids
		7.2.5	 Non-pharmacologic Treatments of Neuropathic Pain
	Further Readings
8: Cranial Nerves
	8.1	 Introduction
	8.2	 Olfactory Nerve
	8.3	 Optic Nerve
	8.4	 Oculomotor Nerve
	8.5	 Trochlear Nerve
	8.6	 Trigeminal Nerve
	8.7	 Abducens Nerve
	8.8	 Facial Nerve
	8.9	 Acoustic Nerve
	8.10	 Vestibular Nerve
	8.11	 Glossopharyngeal Nerve
	8.12	 Vagus Nerve
	8.13	 Accessory Nerve
	8.14	 Hypoglossal Nerve
	8.15	 Oral Cavity
		8.15.1	 Ventral Part and Closure
		8.15.2	 Middle Part, Oral Cavity, and Tongue
		8.15.3	 Posterior Part, Gag, and Swallowing
	8.16	 CNs and Painful Conditions: A Checklist
	8.17	 CN Examination in Coma (Table 8.8)
	8.18	 Pupil
		8.18.1	 Anatomy and Conditions Associated with Pupillary Dysfunction
	8.19	 Multiple and Combined Oculomotor Nerve Palsies (Table 8.9)
	Further Readings
9: Radiculopathies
	9.1	 Cervical Radicular Symptoms
	9.2	 Thoracic Radicular Nerves
	9.3	 Lumbar and Sacral Radiculopathy
	9.4	 Cauda Equina Syndrome
	Further Readings
		Thoracic
		Lumbar
		Cauda
10: Plexopathies
	10.1	 Introduction
	10.2	 Cervical Plexus and Cervical Spinal Nerves
		10.2.1	 Infectious
	10.3	 Brachial Plexus
	10.4	 Thoracic Outlet Syndromes (TOS)
		10.4.1	 True Neurogenic TOS
		10.4.2	 Arterial TOS
		10.4.3	 Venous TOS
		10.4.4	 Disputed Neurogenic TOS
		10.4.5	 Others
	10.5	 Lumbosacral Plexus
		10.5.1	 Diagnosis
	Further Readings
11: Mononeuropathies
	11.1	 Introduction
	11.2	 Mononeuropathies: Upper Extremities
		11.2.1 Axillary Nerve
		11.2.2 Musculocutaneous Nerve
		11.2.3 Cutaneous Nerves of the Shoulder and Upper Arm
		11.2.4 Nerves around the Elbow
		11.2.5 Median Nerve
		11.2.6 Ulnar Nerve
		11.2.7 Radial Nerve
		11.2.8 Cutaneous Forearm Nerves
		11.2.9 Digital Nerves of the Hand
	11.3	 Truncal Mononeuropathies
		11.3.1 Phrenic Nerve
		11.3.2 Dorsal Scapular Nerve
		11.3.3 Suprascapular Nerve
		11.3.4 Subscapular Nerve (Inferior Scapular Nerve)
		11.3.5 Long Thoracic Nerve
		11.3.6 Thoracodorsal Nerve
		11.3.7 Innervation of the Shoulder
		11.3.8 Pectoral Nerve
		11.3.9 Thoracic Spinal Nerves
		11.3.10 Intercostobrachial Nerve
		11.3.11 Around the Breast
		11.3.12 Abdominal Walls and their Innervation
		11.3.13 Iliohypogastric Nerve
		11.3.14 Ilioinguinal Nerve
		11.3.15 Genitofemoral Nerve
		11.3.16 Superior and Inferior Gluteal Nerves
		11.3.17 Cluneal Nerves
		11.3.18 Pudendal Nerve
	11.4	 Mononeuropathies: Lower Extremities
		11.4.1 Obturator Nerve
		11.4.2 Neurology and the Hip
		11.4.3 Femoral Nerve
		11.4.4 Saphenous Nerve
		11.4.5 Lateral Femoral Cutaneous Nerve
		11.4.6 Posterior Cutaneous Femoral Nerve
		11.4.7 Sciatic Nerve
		11.4.8 Around the Knee
		11.4.9 Peroneal Nerve
		11.4.10 Tibial Nerve (Posterior Tibial Nerve)
		11.4.11 Posterior Tarsal Tunnel Syndrome
		11.4.12 Anterior Tarsal Tunnel Syndrome
		11.4.13 Sural Nerve
		11.4.14 Nerves of the Foot
		11.4.15 Interdigital Neuroma and “Neuritis” (Morton’s Neuroma)
	11.5	 Peripheral Nerve Tumors
	References
		Further Readings
		Shoulder
		Upper Extremities
		Truncal Mononeuropathies
		Lower Extremities
		Peripheral Nerve Tumors
12: Polyneuropathies
	12.1	 Introduction
		12.1.1 Anatomical Distribution
		12.1.2 Clinical Syndromess
	12.2	 Metabolic Diseases
		12.2.1 Diabetic Distal Symmetric Polyneuropathy
		12.2.2 Diabetic Autonomic Neuropathy
		12.2.3 Diabetic Cranial Mononeuropathy and Diabetic Radiculoplexus Neuropathy
		12.2.4 Distal Symmetric Polyneuropathy of Renal Disease
	12.3	 Neuropathies Associated with Paraproteinemias
		12.3.1 Multiple Myeloma Neuropathy
		12.3.2 Monoclonal Gammopathy of Undetermined Significance (MGUS)
		12.3.3 Demyelinating Neuropathy Associated with Anti-MAG Antibodies
		12.3.4 Waldenström’s Macroglobulinemia
		12.3.5 POEMS Syndrome
		12.3.6 AL and TTR Amyloid Neuropathy
	12.4	 Vasculitides
		12.4.1 Nonsystemic Vasculitic Neuropathy
		12.4.2 Vasculitic Neuropathy, Systemic
		12.4.3 Sjögren’s Neuropathy
	12.5	 Infectious Neuropathies
		12.5.1 Human Immunodeficiency Virus-1 Neuropathy
		12.5.2 Herpes Zoster Neuropathy
		12.5.3 Lyme Disease (Neuroborreliosis)
		12.5.4 Leprosy
	12.6	 Inflammatory Neuropathies
		12.6.1 Guillain–Barré Syndrome (GBS) - Acute Inflammatory Demyelinating Polyneuropathy (AIDP) Subtype
		12.6.2 GBS—Acute Motor Axonal Neuropathy (AMAN) Subtype
		12.6.3 GBS—Acute Motor and Sensory Axonal Neuropathy (AMSAN) Subtype
		12.6.4 GBS—Miller Fisher Syndrome Subtype
		12.6.5 Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) [Typical]
		12.6.6 Multifocal Motor Neuropathy (MMN)
		12.6.7 Multifocal Asymmetric Demyelinating Acquired Sensorimotor Neuropathy (MADSAM)
	12.7	 Nutritional Neuropathies
		12.7.1 Cobalamin Neuropathy
		12.7.2 Post-Gastroplasty Neuropathy
		12.7.3 Pyridoxine Neuropathy
		12.7.4 Strachan’s Syndrome
		12.7.5 Thiamine Neuropathy
		12.7.6 Tocopherol Neuropathy
	12.8	 Drugs, Industrial Agents, and Metals
		12.8.1 Alcohol Polyneuropathy
		12.8.2 Other Drug-Induced Neuropathies
		12.8.3 Toxic Neuropathies: Industrial Agents
		12.8.4 Toxic Neuropathies: Metals
	12.9	 Critical Illness Neuropathy
	12.10	 Hereditary Neuropathies
		12.10.1 Hereditary Motor and Sensory Neuropathies: Charcot–Marie–Tooth Disease
		12.10.2 Hereditary Neuropathy with Liability to Pressure Palsy (HNPP)
		12.10.3 Hereditary Neuralgic Amyotrophy
		12.10.4 Hereditary Sensory Autonomic Neuropathies
		12.10.5 Distal Hereditary Motor Neuropathies (d-HMN)
		12.10.6 Porphyria
	12.11	 Cancer and Neuropathy
		12.11.1 Paraneoplastic Neuropathies
		12.11.2 Neuropathies in Lymphoma and Leukemia
		12.11.3 Polyneuropathy and Chemotherapy
			12.11.3.1	 Platinum Compounds
			12.11.3.2	 Taxanes
			12.11.3.3	 Epothilones
			12.11.3.4	 Vinca Alkaloids
			12.11.3.5	 Proteasome Inhibitors
			12.11.3.6	 Thalidomide and Lenalidomide
			12.11.3.7	 Hybrid Therapies
	12.12	 Cryptogenic Sensory Peripheral Neuropathy
	Further Readings
13: Neuromuscular Transmission: Endplate Disorders
	13.1	 Introduction
	13.2	 Myasthenia Gravis
	13.3	 Congenital Myasthenic Syndromes
	13.4	 Lambert–Eaton Myasthenic Syndrome (LEMS)
	13.5	 Botulism
	13.6	 Neuromyotonia (Isaacs’ Syndrome)
	Further Readings
		Myasthenia Gravis
		Congenital Myasthenic Syndromes
		Lambert-Eaton Myasthenic Syndrome (LEMS)
		Botulism
		Neuromyotonia (Isaacs’ Syndrome)
14: Muscle and Myotonic Diseases
	14.1	 Introduction
		14.1.1	 Electrophysiology
		14.1.2	 Muscle Histology and Immunohistochemistry
		14.1.3	 Molecular Genetics in Muscle Disease
		14.1.4	 Clinical Phenotypes of the Inherited Myopathies
		14.1.5	 Therapy for Neuromuscular Diseases
	14.2	 Polymyositis (PM) and Dermatomyositis
	14.3	 Inclusion Body Myositis (IBM)
	14.4	 Immune-Mediated Necrotizing Myopathy (IMNM)
	14.5	 Connective Tissue Diseases (CTDs) in “Overlap” Myositis (OM)
	14.6	 Viral Myopathies
	14.7	 Toxic Myopathies
	14.8	 Critical Illness Myopathy (CIM)
	14.9	 Myopathies Associated with Endocrine/Metabolic Disorders and Carcinoma
	14.10	 Duchenne Muscular Dystrophy (DMD)
	14.11	 Becker Muscular Dystrophy (BMD)
	14.12	 Myotonic Dystrophy (DM)
	14.13	 Limb-Girdle Muscular Dystrophy (LGMD)
	14.14	 Oculopharyngeal Muscular Dystrophy (OPMD)
	14.15	 Facioscapulohumeral Muscular Dystrophy (FSHD)
	14.16	 Emery–Dreifuss Muscular Dystrophy (EDMD)
	14.17	 Distal Myopathies
	14.18	 Congenital Myopathies
	14.19	 Mitochondrial Myopathies
	14.20	 Glycogen Storage Diseases (GSDs)
	14.21	 Defects of Fatty Acid Oxidation and the Carnitine Shuttle System (DFAOCSS)
	14.22	 Myotonia Congenita
	14.23	 Paramyotonia Congenita
	14.24	 Hyperkalemic Periodic Paralysis (HyperPP)
	14.25	 Hypokalemic Periodic Paralysis (HypoPP)
	References
		Duchenne Muscular Dystrophy
		Myotonic Dystrophy (DM)
		Limb-Girdle Muscular Dystrophy (LGMD)
		Emery-Dreifuss Muscular Dystrophy (EDMD)
		Distal Myopathies
		Further Readings
		Polymyositis (PM) and Dermatomyositis
		Inclusion Body Myositis (IBM)
		Immune-Mediated Necrotizing Myopathy (IMNM)
		Connective Tissue Diseases (CTDs) in “Overlap” Myositis
		Viral Myopathies
		Duchenne Muscular Dystrophy
		Becker Muscular Dystrophy
		Myotonic Dystrophy (DM)
		Limb-Girdle Muscular Dystrophy (LGMD)
		Oculopharyngeal Muscular Dystrophy (OPMD)
		Facioscapulohumeral Muscular Dystrophy (FSHD)
		Congenital Myopathies
		Mitochondrial Myopathies
		Glycogen Storage Diseases
		Defects of Fatty Acid Oxidation and the Carnitine Shuttle System
		Toxic Myopathies
		Critical Illness Myopathy
		Myopathies Associated with Endocrine/Metabolic Disorders and Carcinoma
		Myotonia Congenita and Paramyotonia Congenita
		Hyperkalemic and Hypokalemic Periodic Paralysis
15: Motor Neuron Diseases
	15.1	 Amyotrophic Lateral Sclerosis (ALS)
	15.2	 Spinal and Bulbar Muscular Atrophy (SBMA, Kennedy Syndrome)
	15.3	 Spinal Muscular Atrophies (SMA)
	15.4	 Poliomyelitis and Post-Polio Syndrome (PPS)
	Further Readings
		Amyotrophic Lateral Sclerosis
		Spinal and Bulbar Muscular Atrophy (SBMA, Kennedy Syndrome)
		Spinal Muscular Atrophies (SMA)
		Poliomyelitis and Post-Polio Syndrome (PPS)
16: Autonomic Neuropathies
	16.1	 Introduction
	16.2	 Anatomy
		16.2.1	 Common Autonomic CNS Structures
		16.2.2	 Sympathetic Nervous System
		16.2.3	 Parasympathetic Nervous System
		16.2.4	 Enteric Nervous System
	16.3	 History Taking and Bedside Tests
		16.3.1	 Autonomic Testing
		16.3.2	 Cardiovascular Reflex Tests
		16.3.3	 Sudomotor Tests
	16.4	 Autonomic Syndromes
		16.4.1	 Orthostatic Hypotension (OH)
		16.4.2	 Diabetic Autonomic Neuropathy
		16.4.3	 Supine Hypertension (SH)
		16.4.4	 Reflex Syncope
		16.4.5	 Postural Orthostatic Tachycardia Syndrome (POTS)
	Reference
		Further Readings
General Disease Finder
Index