Clinical Handbook of Neuromuscular Medicine, 2e (Jan 2, 2025)_(3031704584)_(Springer).pdf

Preface
Contents
Part I: Overview
1: Approach to the Patient with Neuromuscular Symptoms
	Clinical Assessment of Suspected Neuromuscular Disease
	The Neuromuscular Medical History
		Turning a Chief Complaint into a Localization Hypothesis
			•If the chief complaint is “weakness,” find out
			•If the chief complaint is “numbness,” find out
			•If the chief complaint is pain, ask about
			•If the chief complaint is pain, find out if
			in all pure motor syndromes.
			Other important things to remember in the neuromuscular history include the following:
	The Neuromuscular Examination
	References
2: Pathophysiologic Mechanisms in Neuromuscular Disease
	Disorders of Cellular Maintenance: Clearance of Protein Aggregates and Cellular Debris
	Failure of Power Generation
	Disorders of Cell Structure: Structural and Membrane Proteins
	Disorders of Membrane and Synaptic Proteins and Channels
		Disorders of Information Processing: Transduction, Splicing, and Translation
		Widespread Tissue Injury
		Loss of Function
		Gain of Function
		Aberrant Transcription and Translation
	Summary
	References
Part II: Diagnostic Tools in Neuromuscular Disease
3: Electrodiagnostic Testing
	Introduction
	Nerve Conduction Studies/Electromyography: Overview
	Nerve Conduction Studies
		Nerve Conduction Study Procedures
		Motor Nerve Conduction Studies
		Sensory Nerve Conduction Studies
		Late Responses
			F-Wave
			H-Reflex
		Interpretation of Nerve Conduction Study Parameters
		Localization Using Nerve Conduction Studies
		Sensory Symptoms with Normal Sensory Conduction Studies
	Electromyography
		EMG Procedures
		Spontaneous Activity
			Fibrillation Potentials and Positive Sharp Waves
			Fasciculation Potentials
			Complex Repetitive Discharges (CRDs)
			Myotonic Discharges
			Neuromyotonia
			Myokymia
			End Plate Noise and Spikes
		Motor Unit Action Potential Morphology
			Normal Motor Unit Action Potentials
			Abnormal Motor Unit Action Potentials
		Motor Unit Recruitment
		Interpreting Electrodiagnostic Findings
	Summary
	References
4: Imaging in Neuromuscular Disorders
	Introduction
	Ultrasonography: Principles [1, 2]
	Ultrasonography in Focal Neuropathies: Anatomy and Common Pathologies
		Median Nerve
		Ulnar Nerve
		Radial Nerve
		Peroneal Nerve
		Tibial Nerve
		Brachial Plexus
		Generalized Neuropathies
	Ultrasonography in Myopathies (Table 4.2)
	Other Applications of Neuromuscular Ultrasound
	Magnetic Resonance Imaging (MRI) in Neuromuscular Disorders
		General Principles
		Inherited Myopathies
		Acquired Myopathies
		MR Imaging of Neuropathies
	References
5: Neuromuscular Biopsy
	Introduction
	Muscle Biopsy
		Interpretation of the Muscle Biopsy
		Conclusion
	Nerve Biopsy
		Less Common Studies
	Skin Biopsy
		Technique of Skin Biopsy for ENFd Determination
	References
6: Genetic Testing in Neuromuscular Disease
	Introduction
	Clinical Utility of Genetic Testing
	Genetics and Inheritance
	Inheritance Patterns
	Exceptions to the Mendelian Inheritance Patterns
	Types of Mutations
		Single-Base Substitutions
		Small Deletions or Insertions
		Repeat Expansion Disorders
		Structural Variation
	Genetic Testing Methods
		Methods
		Approach
		Limitations
	Cost of Genetic Testing
	Variant Interpretation
	Gene-Based Therapy
	Epigenetics
	Conclusion
	Appendix: Additional Resources
	References
Part III: Neuromuscular Disorders
7: Diseases of Muscle
	General Approach to Myopathies: Symptoms, Clinical Signs, and Diagnostic Evaluation
	Useful Tests in the Investigation of Myopathies
		Serum Creatine Kinase (CK)
		Needle Electromyographic (EMG) Examination
		Muscle Biopsy
		Genetic Testing
		Muscle Imaging
		Forearm Exercise Test
	Muscle Diseases by Category
		Muscular Dystrophies
			Duchenne Muscular Dystrophy (DMD)
			Facioscapulohumeral Dystrophy (FSHD)
		Myotonic Dystrophy
			Limb-Girdle Muscular Dystrophy
			Distal Muscular Dystrophies (Also Known as Distal Myopathies)
			Oculopharyngeal Muscular Dystrophy
		Inflammatory Myopathies
			Dermatomyositis
			Polymyositis
			Anti-Synthetase Syndrome
			Inclusion Body Myositis
			Immune Necrotizing Myopathies
		Toxic Myopathies
			Statin-Induced Myopathy
			Colchicine/Amiodarone Toxicity
			AZT and Other Nucleoside Reverse Transcriptase Inhibitors
			Alcohol
			Corticosteroid Myopathies
			Checkpoint Inhibitors
		Metabolic Myopathies
			Pompe Disease
			McArdle Disease
			Carnitine Palmitoyltransferase 2 Deficiency
		Channelopathies
			Myotonia Congenita
			Paramyotonia Congenita and Hyperkalemic Periodic Paralysis
			Hypokalemic Periodic Paralysis
			Andersen-Tawil Syndrome
		Mitochondrial Myopathies
			Chronic Progressive External Ophthalmoplegia (CPEO)
			Kearns-Sayre Syndrome
			Mitochondrial Myopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
			Myoclonic Epilepsy and Ragged Red Fibers (MERRF)
			Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
		Myopathies Associated with Systemic Medical Conditions [49]
			Hypothyroidism
			Hyperthyroidism
			Other Endocrinopathies
			Acute Quadriplegic Myopathy
		Congenital Myopathies
	References
8: Disorders of Neuromuscular Transmission
	Disorders of Neuromuscular Transmission
	Myasthenia Gravis (MG)
	Lambert-Eaton Myasthenic Syndrome (LEMS)
	Botulism
	Congenital Myasthenic Syndromes (CMS)
	References
9: Motor Neuron Disorders
	Introduction
	Amyotrophic Lateral Sclerosis
		Diagnosis of ALS
		ALS Mimics
		ALS Subtypes
		Cognitive and Behavioral Dysfunction and ALS
		Etiology of ALS
		Management of ALS
			Treatment of ALS
			Supportive Therapy of ALS
		End-of-Life Care
	Other Motor Neuron Disorders
		Primary Lateral Sclerosis
		Spinal Muscular Atrophy
		Spinobulbar Muscular Atrophy or Kennedy’s Disease
		Poliomyelitis
		Hirayama Disease (Monomelic Amyotrophy)
	Summary
	References
10: Diseases of Nerve
	Introduction
	Symptoms and Signs of Peripheral Neuropathy
	Polyneuropathy Classification
	Descriptions of Polyneuropathies by Etiology
		Length-Dependent Polyneuropathies
		Charcot-Marie-Tooth
			CMT1
			CMT2
			Other Forms of CMT
		Generalized (Non-Length-Dependent) Polyneuropathies
	Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
		Autoimmune Nodopathies
	Guillain-Barré Syndrome (GBS)
		Acute Motor Axonal Neuropathy (AMAN)
		Acute Motor-Sensory Axonal Neuropathy (AMSAN)
		Miller Fisher Syndrome (MFS)
	Sensory Ganglionopathy
	Multifocal Polyneuropathy
		Vasculitis
		Infiltrative Disorders
		Multifocal Motor Neuropathy and Lewis-Sumner Syndrome
		HNPP
	Findings Isolated to One Limb
		Radiculopathy
		Plexopathy
			Neuralgic Amyotrophy (Parsonage-Turner Syndrome)
			Hereditary Neuralgic Amyotrophy
			Diabetic Amyotrophy (Diabetic Radiculoplexus Neuropathy)
			Plexopathy Associated with Mass
			Radiation-Induced Plexopathy
			Postoperative Plexopathies
			Diagnostic Testing for Brachial and Lumbosacral Radiculopathy and Plexopathy
			Treatment of Cervical and Lumbosacral Radiculopathy and Plexopathy
		Mononeuropathies
			Compression, Entrapment, or Trauma
			Diabetes: A Special Case
	Neuropathies Associated with Monoclonal Gammopathies
		Monoclonal Gammopathy of Undetermined Significance (MGUS)
		Multiple Myeloma
		Amyloidosis
		POEMS Syndrome
		Waldenstrom Macroglobulinemia
		Cryoglobulinemia
	Summary
	References
11: The Diagnostic Approach to the Hypotonic and Weak Infant
	Introduction
	The Diagnostic Evaluation of the Hypotonic Infant
		Physical and Neurological Examination
		Motor Examination
		Supine
		Prone
		Upright
	Central Hypotonia
	Peripheral Hypotonia
		Diagnostic Evaluation of Suspected Disorders of the Motor Unit
			Molecular Diagnostics
			Electrodiagnostic Studies
			Histopathological Evaluation
			Biochemical Testing
			Imaging
			Pharmacological Testing
	Selected Neuromuscular Disorders that Can Present as a Hypotonic Infant
		Disorders of Anterior Horn Cells
			Spinal Muscular Atrophy
				Treatments for SMA
				Other Causes of SMA
		Disorders of Peripheral Nerves
		Myopathic Disorders
			Congenital Myotonic Dystrophy
			Congenital Muscular Dystrophy
				LAMA2-CMD (Laminin Alpha 2 or Merosin-Deficient CMD, MDC1A)
				α-Dystroglycan-Related CMD
				Collagen VI (COL6)-Related Muscular Dystrophies
				SEPN1-Related Myopathy
				Recessive RYR1-Related Myopathy
				LMNA-Related CMD
		Congenital Myopathies
	Disorders of Neuromuscular Transmission
	Conclusion
	References
Part IV: Symptom and Disability Management in Neuromuscular Disease
12: Symptom and Disability Management in Neuromuscular Disease: Introduction
	Introduction
	The Multidisciplinary Model
	Occupational Therapy (OT) Role
	Physical Therapy (PT) Role
	Speech-Language Pathologist (SLP) Role
	Assistive Technology Professional (ATP) Role
	Orthotist Role
	Hand Therapist Role
	References
13: Occupational Therapy Management of Activities of Daily Living in Neuromuscular Disease
	Activities of Daily Living (ADLs) and Instrumental Activities of Daily Living (IADLs)
		ADL/IADL
	Fatigue and Impaired Respiratory and Cardiac Function
	Electronic Aids to Daily Living (EADLs) and Assistive Technology
	Occupational Therapy Assessment
		Home Accessibility
	Upper Body Orthoses and Robotic-Assisted Devices
	Functional Vision
	Cognition and Behavior
	References
		Resources
14: Mobility Management in Neuromuscular Disease
	Mobility Interventions
		Ambulation
		Lower Extremity Orthoses
		Seating and Wheeled Mobility
	Fall Prevention
	Gait and Balance Assessments
	Functional Transfers
	Exercise, Spasticity Management, and Contracture Prevention
		Exercise
		Spasticity Management, Contracture Prevention, and Pain Assessment
	References
		Resources
15: Swallowing Management in Neuromuscular Disease
	Normal Swallowing Function
	Assessment of Swallowing Function
	Management of Impaired Swallowing
	Nutrition in Neuromuscular Disease
	Gastrostomy
	References
16: Ventilatory Management in Neuromuscular Disease
	Acute Respiratory Failure: Rapidly Progressive Neuromuscular Conditions
	Acute Respiratory Failure: Non-neuromuscular Exacerbation
	Chronic Respiratory Failure
	NIV Management
	Invasive Mechanical Ventilation
	Supportive Care and General Health Measures for People with Chronic Ventilatory Failure
	Perioperative Management
	Conclusions
	References
17: Communication Aids in Neuromuscular Disease
	Speech and Dysarthria/Dysphonia
	Augmentative and Alternative Communication
	Emerging Technologies
	References
Appendix: Outcome Measures and Functional Scales in Neuromuscular Disease
References
Index