neuromuscular disorders treatment and management, 2011, pg

Cover

Neuromuscular Disorders Treatment and Management

Front matter
SBN-13 9781437703726
Copyright
Dedication
Preface
Acknowledgments
Contributors

Part I: General Principles in the Treatment and Management of Neuromuscular Disorders

Introduction: Evaluation of Patients with Neuromuscular Disorders
- Medical History and Symptoms
- Physical Examination
- Diagnostic Tests
- Electrophysiologic Tests
- Histologic Tests
- References
Respiratory Complications in Neuromuscular Disorders
- Management of Neuromuscular Diseases Resulting in Chronic Respiratory Failure
  - Bilateral Diaphragm Paralysis
  - Assessment and Management of the Patient with an Established Neurologic Diagnosis
    - Muscular Dystrophies
      - Spinal Cord Injury
      - Persistent Polio Disability and Post-Polio Syndrome
    - Motor Neuron Diseases
      - Spinal Muscular Atrophy
      - Amyotrophic Lateral Sclerosis
- Management of Neuromuscular Diseases Resulting in Acute Respiratory Failure
  - Guillain-Barré Syndrome
  - Myasthenia Gravis
  - Miscellaneous Conditions
- Acute Exacerbations of Chronic Neuromuscular Respiratory Failure
- References
Cardiac Complications of Neuromuscular Disorders
- Duchenne Muscular Dystrophy
- Becker Muscular Dystrophy
- Carriers of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
- X-Linked Dilated Cardiomyopathy
- Limb-Girdle Muscular Dystrophy
- Myotonic Dystrophy
- Emery-Dreifuss Muscular Dystrophy
- Facioscapulohumeral Dystrophy
- Other Neuromuscular Disorders
  - Friedreich Ataxia
  - Barth Syndrome
  - Pompe Disease
  - Mitochondrial Disorders (Myoclonus Epilepsy with Ragged-Red Fibers, Mitochondrial Encephalomyopathy with Lactic Acidosis and S...
  - Congenital Muscular Dystrophies
- Diagnosis and Evaluation
  - History and Physical Examination
  - Electrocardiography
  - Holter Monitors
  - Echocardiography
  - Magnetic Resonance Imaging
  - Cardiac Catheterization
  - Electrophysiologic Testing
- Pathology
- Treatment
  - Corticosteroids
  - Other Pharmacologic Therapy
    - Angiotensin-Converting Enzyme Inhibitors and Beta Blockers
  - Heart Failure
  - Anticoagulation
  - Arrhythmias
  - Cardioversion
  - Pacemaker Implantation
  - Implantable Cardioverter-Defibrillator Implantation
  - Cardiac Transplantation
- Preoperative Assessment
- Experimental Therapies
- Monitoring
  - Carriers of Duchenne Muscular Dystrophy or Becker Muscular Dystrophy
  - Limb-Girdle Muscular Dystrophy
  - X-Linked Emery-Dreifuss Muscular Dystrophy
  - Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
  - Friedreich Ataxia
- Summary
- Conclusion
- References
Gastrointestinal Complications of Neuromuscular Disorders
- Pharynx and Esophagus
  - Impairment of Deglutition (Dysphagia)
    - Pathogenesis
    - Clinical Manifestations
      - Dysphagia in Motor Neuron Disorders
      - Dysphagia in Primary Muscular Disorders
      - Dysphagia in Inflammatory Myopathies and Neuromuscular Junction Disorders
      - Dysphagia in Peripheral Neuropathy
      - Weight Loss
    - Diagnosis and Evaluation of Dysphagia
    - Treatment and Management
      - Contraindications to PEG Tube Placement
      - Gastrostomy in Children
      - Survival after PEG Tube Placement
      - Enteral Nutrition
      - Cricopharyngeal Myotomy
- Stomach and Duodenum
  - Dyspepsia and Gastric Emptying Issues
- Small Intestine
  - Chronic Intestinal Pseudo-Obstruction
- Large Intestine and Anal Sphincter
  - Constipation
  - Fecal Incontinence
- Peripheral Neuropathy and the Gastrointestinal System
- Conclusion
- References
Autonomic Dysfunction in Neuromuscular Disorders
- Overview of the Autonomic Nervous System
  - Sympathetic Nervous System
  - Parasympathetic Nervous System
  - Enteric Nervous System
- Evaluation of the Autonomic Nervous System
  - Indications for Autonomic Testing
  - Preparation for Autonomic Testing
  - Tests of Autonomic Function
    - Hemodynamic Response to Standing
    - Tilt-Table Testing
    - Heart Rate Response to Deep Breathing
    - Valsalva Maneuver
    - Isometric Handgrip
  - Tests of Sympathetic Cholinergic Function
    - Sympathetic Skin Response
    - Thermoregulatory Sweat Testing
    - Quantitative Sudomotor Axon Reflex Testing
  - Summary of Autonomic Testing
- Types of Autonomic Neuropathy
  - Chronic Autonomic Neuropathies
    - Diabetic Autonomic Neuropathy
      - Cardiovascular Autonomic Neuropathy in Diabetes
      - Gastrointestinal Autonomic Neuropathy in Diabetes
      - Genitourinary Autonomic Neuropathy in Diabetes
      - Sudomotor Dysfunction in Diabetes
    - Other Manifestations of Diabetic Autonomic Neuropathy
    - Amyloid Autonomic Neuropathy
  - Autonomic Neuropathies in Association with Metabolic Disease
    - Renal Disease
    - Hepatic Disease
    - Porphyria
    - Nutritional Deficiencies
  - Hereditary Sensory and Autonomic Neuropathies
  - Subacute Autonomic Neuropathies
    - Paraneoplastic Autonomic Neuropathy
  - Autonomic Neuropathies Associated with Rheumatologic Diseases
  - Toxic Autonomic Neuropathies
  - Infectious Autonomic Neuropathies
  - Acute Autonomic Neuropathies
    - Dysautonomia Associated with Guillain-Barré Syndrome
    - Dysautonomia in Chronic Demyelinating Polyradiculoneuropathy
    - Dysautonomia in Autoimmune Autonomic Ganglionopathy
  - Dysautonomia in Diseases of the Neuromuscular Junction
    - Lambert Eaton Myasthenic Syndrome
    - Dysautonomia in Myasthenia Gravis
    - Botulism
- Symptomatic Treatment of Autonomic Disorders
  - Treatment of Orthostatic Hypotension
    - Nonpharmacologic Therapies
    - Primary Therapy
      - Fluodrocortisone
      - Midodrine Hydrochloride
      - Ephedrine and Pseudoephedrine
    - Secondary Therapy
      - Pyridostigmine
      - Vasopressin Analogs
      - Erythropoietin
  - Treatment of Genitourinary Disorders
    - Treatment of Urinary Retention
      - Bethanechol
    - Treatment of Erectile Dysfunction
      - Phosphodiesterase Type 5 Inhibitors
      - Alprostadil
  - Treatment of Gastrointestinal Disorders
    - Treatment of Gastroparesis
      - Metoclopramide
      - Erythromycin
      - Domperidone
      - Clonidine
    - Treatment of Diarrhea
      - Loperamide
      - Clonidine
      - Diphenoxylate
    - Treatment of Constipation
      - Docusate Sodium
      - Laxatives
      - Stimulant Laxatives
      - Pyridostigmine
- References
A Practical Approach to the Treatment of Painful Polyneuropathies
- Definitions and Overview
- Nerve Anatomy
- Overview of Peripheral Neuropathic Pain Pathophysiology
  - Sodium Channels
  - Potassium Channels
  - Calcium Channels
- Modification of Sensory and Nociceptive Afferents
- Evidence-Based Medicine
- Approved and "Off-Label" Medication Uses
- Previous Treatment Recommendations
- General Approach to the Patient with Painful Neuropathy
- "First-Line" Neuropathic Pain Treatments
  - Tricyclic Antidepressants
  - Selective Serotonin and Norepinephrine Reuptake Inhibitors
  - Gabapentinoids
  - Topical Lidocaine
- "Second-Line" Neuropathic Pain Treatments
- Ancillary Treatments
- Conclusion
  - Conflict of Interest Statement
- References
Principles and Guidelines of Immunotherapy in Neuromuscular Disorders
- Basics of the Immune Response
- Autoimmunity
- Immunotherapy
  - Corticosteroids
  - Intravenous Immunoglobulin
  - Therapeutic Plasma Exchange
  - Azathioprine
  - Methotrexate
  - Cyclophosphamide
  - Mycophenolate Mofetil
  - Cyclosporine
  - Tacrolimus
  - Rapamycin
  - Rituximab
  - Other Monoclonal Antibodies
  - Anti-Tumor Necrosis Factor-α Agents
  - Miscellaneous Agents
- Evidence-Based Medicine and Treatment of Autoimmune Neuromuscular Disorders
- References
Rehabilitation in Neuromuscular Disorders
- Management of Muscle Weakness
  - Exercise
    - Flexibility Training
    - Strengthening Exercises
    - Aerobic Exercise
    - Balance Exercises and Training
  - Future Research in Exercise
  - Exercise Recommendations
- Orthoses and Mobility Aids
  - Orthoses
    - Spinal Orthoses
    - Upper Extremity Orthoses
    - Lower Extremity Orthoses
  - Canes, Crutches, and Walkers
  - Seated Mobility Options
  - Orthoses and Mobility Devices in Pediatrics
- Assistive Devices for Activities of Daily Living
  - Assistive Devices for Functional Mobility
  - Assistive Devices for Environmental Control and Communication
  - Other Activities of Daily Living/Independent Activities of Daily Living/Community Participation Aids
- Environmental Evaluations and Modifications
  - School and Workplace Modifications
- Orthopedic Considerations
  - Neuromuscular Scoliosis
  - Joint Contractures
  - Abnormalities of the Feet
- Respiratory Failure
- Dysarthria
  - Identification
  - Dysarthria in Motor Neuron Diseases
  - Dysarthria in Neuromuscular Junction Disorders
  - Dysarthria in Myopathies/Muscular Dystrophies/Peripheral Neuropathies
- Dysphagia
  - Identification
  - Compensatory Strategies and Interventions
- Pain
  - Assessment of Pain
  - Prevention of Pain
  - Management of Pain
    - Additional Pain Management Strategies
- Mood Disorders
- Cognitive Dysfunction
  - Myopathies
  - Neuromuscular Junction and Motor Neuron Diseases
- Quality of Life
  - Measurement
  - Role of the Professional Care Team
- Roles of the Caregiver and Family
- Palliative Care
- References
Orthopedic Surgery in Neuromuscular Disorders
- Muscular Dystrophy
    - Orthopedic Physical Examination
    - Orthopedic Treatment
      - Correction of Lower Extremity Contractures
      - Percutaneous Release of Hip Flexion and Abduction Contractures and Achilles Tendon Contractures
      - Open Lengthening of the Achilles Tendon
      - Transfer of Posterior Tibial Tendon to Dorsum of Foot
      - Transfer of Posterior Tibial Tendon to Dorsum of Base of Second Metatarsal
      - Correction of Spinal Deformities
  - Limb-Girdle Dystrophy
  - Facioscapulohumeral Muscular Dystrophy
  - Congenital Muscular Dystrophies
- Hereditary Motor and Sensory Neuropathies
  - Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
    - Cavovarus Foot Deformity
      - Clinical and Radiographic Evaluation
      - Physical Examination
      - Radiographic Examination
      - Orthopedic Treatment
        Nonoperative Treatment
        Operative Treatment of Foot Deformities
    - Hip Dysplasia
    - Spinal Deformities
  - Charcot-Marie-Tooth Variants
  - Friedreich Ataxia
- References
Perioperative Management of Patients with Neuromuscular Disorders
- Perioperative Management in Specific Neuromuscular Disorders
  - Motor Neuron Diseases
  - Friedreich Ataxia
  - Peripheral Neuropathies
  - Myasthenia Gravis
  - Channelopathies
- Malignant Hyperthermia Syndrome
- Complications of Major Surgery and Organ Transplantation
  - Cardiothoracic Surgery and Transplantation
    - Evaluation and Diagnosis
  - Abdominal Surgery and Transplantation
  - Complications of Bariatric Surgery
- Neuromuscular Disorders Acquired in the Intensive Care Unit
  - Historical Note
  - Critical Illness Polyneuropathy
  - Critical Illness Myopathy
  - Prolonged Neuromuscular Junction Blockade
- References

Part II: Treatment and Management of Specific Neuromuscular Disorders

Treatment and Management of Adult Motor Neuron Diseases
  - Family History
  - Pure Lower Motor Neuron Syndrome
    - Pure Upper Motor Neuron Syndrome
    - Progressive Bulbar Palsy
  - Confounding Features
  - Electrodiagnostic Studies
  - Laboratory Evaluations
  - How to Deliver the Diagnosis
  - Drug Therapies
  - Experimental Trials
  - Nutritional Management
  - Breathing Management
  - Symptomatic Management
  - Equipment Management
  - Social Management
  - Multidisciplinary Care
  - End-of-Life Considerations
- References
Treatment and Management of Spinal Muscular Atrophy and Congenital Myopathies
  - Developmental Delay
  - Failure to Thrive and Gastroenterologic Complications
  - Orthopedic Deformities
  - Facial and Jaw Deformities
  - Pulmonary Management
  - Weak Cough
  - Recurrent Infections
  - Aspiration
  - Sleep-disordered Breathing
  - Psychosocial Issues
- Novel Therapies
- Conclusion
- References
Treatment and Management of Hereditary Neuropathies
- Hereditary Motor and Sensory Neuropathies
  - Clinical Presentation
    - Experimental Therapies for CMT: Modifying PMP22 Expression and Neuroprotection
- Hereditary Motor Neuropathy
- Hereditary Sensory and Autonomic Neuropathies
- Familial Amyloidic Polyneuropathy
- Friedreich Ataxia and Other Spinocerebellar Ataxias
- Inherited Dyslipidemic Neuropathies
  - Abetalipoproteinemia and Hypobetalipoproteinemia
  - Analphalipoproteinemia (Tangier Disease)
- Lysosomal Storage Diseases: Fabry Disease
- Lysosomal Leukodystrophies: Metachromatic Leukodystrophy and Krabbe Disease
- Peroxisomal Disorders: Adrenomyeloneuropathy and Refsum Disease
  - Adrenoleukodystrophy/Adrenomyeloneuropathy: Clinical Presentation
  - Refsum Disease: Clinical Presentation, Diagnosis, and Treatment
- Porphyric Neuropathy
- Conclusion
- Acknowledgments
- References
Treatment and Management of Autoimmune Neuropathies
- Guillain-Barré Syndrome
    - Supportive Care
    - Immunotherapy
  - Outcome
- Chronic Inflammatory Demyelinating Polyradiculoneuropathy
  - Outcome
- Multifocal Motor Neuropathy
  - Outcome
- Lewis-Sumner Syndrome
- Paraproteinemic Neuropathies: Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Monoclonal Gammopathy ...
  - Outcome
- Paraproteinemic Neuropathies: Primary Systemic Amyloidosis
- Paraproteinemic Neuropathies: POEMS Syndrome (Osteosclerotic Myeloma)
- Vasculitis
  - Outcome
- Cryoglobulinemia
  - Treatment
- Nonvasculitic Neuropathies Associated with Connective Tissue Disease
  - Treatment
- Autoimmune Lumbosacral Plexopathy
  - Outcome
- Autoimmune Brachial Plexopathy
  - Outcome
- Celiac Disease
- Paraneoplastic Sensory Neuronopathy
  - Outcome
- References
Treatment and Management of Infectious, Granulomatous, and Toxic Neuromuscular Disorders
- Infections of Nerve and Muscle
  - HIV Neuropathies and Myopathies
  - West Nile Virus Neuroinvasive Disease
  - Nervous System Lyme Disease (Lyme Neuroborreliosis)
  - Leprous Neuropathy
  - Other Infectious Neuropathies and Myopathies
- Human T-Lymphotrophic Virus
- Other Viral Myopathies
- Parasitic Myositis
- Granulomatous Diseases of Nerve and Muscle
  - Sarcoid Neuropathy and Myopathy
- Toxic Neuropathies and Myopathies
  - Toxic Neuropathies
- Arsenic
- Thallium
- Lead
- Hexacarbon Neuropathy
- Alcoholic Neuropathy
  - Medication-Induced Neuropathies
- Chemotherapy-Associated Neuropathy
- Tumor Necrosis Factor-α Antagonists
- Antiretroviral Agents
  - Toxic and Medication-Induced Myopathies
- Statin-Associated Myopathy
- Steroid Myopathy
- Alcoholic Myopathy
- Nucleoside Analog-Induced Myopathy
- Antimicrotubular Myopathy (Colchicine Myopathy)
- Chloroquine Neuromyopathy
  - Other Medications
  - Biologic Toxins
- References
Treatment and Management of Segmental Neuromuscular Disorders
- Radiculopathy
  - Clinical Pathoanatomy
  - Spinal Roots
  - Pathology of Degenerative Spine Disease
  - Pathophysiology
  - Electrodiagnosis
  - Cervical Radiculopathy
    - Clinical Signs and Symptoms
  - Lumbosacral Radiculopathy
- Plexopathies
  - Imaging of the Plexus and Peripheral Nerves
  - Disorders of the Brachial Plexus
- Neuralgic Amyotrophy
- Radiation and Neoplastic Plexopathies
- Postoperative Brachial Plexopathy
- Traumatic Plexopathies
- Thoracic Outlet Syndrome
  - Treatment and Management of Brachial Plexopathy
  - Evaluation and Diagnosis of Brachial Plexopathy
  - Disorders of the Lumbosacral Plexus
- Diabetic Amyotrophy
- Radiation and Neoplastic Plexopathies
- Lumbosacral Plexopathy
- Focal Neuropathies
  - Pathology and Pathophysiology of Compression/Entrapment Neuropathies
- Focal Neuropathy Syndromes
  - Carpal Tunnel Syndrome
  - Proximal Median Neuropathies
  - Ulnar Neuropathy at the Elbow
    - Treatment
  - Ulnar Neuropathy Not at the Elbow
  - Radial Neuropathy
  - Common Peroneal Neuropathy at the Fibular Head
- References
Treatment and Management of Disorders of Neuromuscular Hyperexcitability
- Central Disorders
  - Stiff-Person Syndrome
  - Tetanus
- Disorders of Peripheral Nerve Hyperexcitability
  - Neuromyotonia
      - Isaacs Syndrome
      - Cramp-Fasciculation Syndrome
      - Isaacs Syndrome
      - Cramp-Fasciculation Syndrome
- Primary Disorders of Muscle
  - Rippling Muscle Disease
  - Muscle Channelopathies
    - Nondystrophic Myotonias
        Myotonia Congenita
        Paramyotonia Congenita
        Potassium-Aggravated Myotonias
        Schwartz-Jampel Syndrome
      - Treatment of Nondystrophic Myotonias
    - Periodic Paralysis
        Hyperkalemic Periodic Paralysis
        Hypokalemic Periodic Paralysis
        Andersen-Tawil Syndrome
        Secondary Periodic Paralysis
        Provocative Tests
      - Treatment and Management of Periodic Paralysis
        Treatment and Management of Acute Attacks
        Treatment and Management of Andersen-Tawil Syndrome
  - Brody Disease
  - Metabolic Myopathies
- References
- Appendix 17-1. Exercise Tests for Periodic Paralysis
  - Short Exercise Test (Streib, 1987; Fournier et al, 2004)
  - Long Exercise Test (McManis et al, 1986; Kuntzer et al, 2000
- References
Treatment and Management of Disorders of the Neuromuscular Junction
- Myasthenia Gravis
    - Symptomatic Treatment
      - Acetylcholinesterase Inhibitors (AChEIs)
    - Immunotherapy
      - Immunosuppressive Therapy
        Steroids
        Azathioprine
        Cyclosphosphamide
        Cyclosporine A
        Mycophenolate Mofetil
        Tacrolimus
        Methotrexate
        Rituximab
      - Immunomodulating Therapies
        Plasma Exchange
        Intravenous Immunoglobulin
        Thymectomy
  - Treatment of the Specific Subtypes of Myasthenia Gravis
    - Myasthenic Crisis
      - Clinical Signs of Myasthenic Crisis
      - Treatment of Myasthenia Gravis
      - Respiratory Management and Treatment
    - Ocular Myasthenia Gravis
    - MuSK-Ab-Positive Myasthenia Gravis
    - Pregnancy
      - Management of Myasthenia Gravis
      - Management of Myasthenia Gravis during Labor and Delivery
      - Neonatal Myasthenia Gravis
      - Arthrogryposis Multiplex Congenita
      - Breastfeeding
    - Thymoma
      - Radiation Therapy
      - Preoperative Therapy for Thymoma Surgery
  - Drugs and Agents Unmasking or Aggravating Myasthenia Gravis
  - General Guidelines for Therapeutic Management of Myasthenia Gravis
- Lambert-Eaton Myasthenic Syndrome
      - Guanidine
      - Aminopyridine
      - AChE Inhibitors
    - Immunotherapy
      - Immunosuppressive Therapy
      - Immunomodulating Therapy
    - Tumor Treatment in Lambert-Eaton Myasthenic Syndrome
  - Drugs Aggravating Lambert-Eaton Myasthenic Syndrome
  - General Guidelines for the Therapeutic Management of Lambert-Eaton Myasthenic Syndrome
- Botulism
  - Types of Botulism
    - Foodborne Botulism
    - Infant Botulism
    - Wound Botulism
    - Adult Variant of Infant Botulism
    - Iatrogenic Botulism
    - Inhalation Botulism
  - Pathophysiology
    - Electrodiagnostic Features
    - Diagnosis
    - Intensive Supportive Care
    - Trivalent Equine Botulism Antitoxin
    - Human Botulism Immune Globulin
    - Guanidine and 3,4-DAP
    - Antibiotics
    - Toxin Removal Treatment
  - General Guidelines for Therapeutic Management
- Congenital Myasthenic Syndromes
    - Clinical Manifestation
    - RNS Test
    - Diagnosis
    - AChE Inhibitors
    - Ephedrine
    - 3,4-Diaminopyridine (DAP)
    - Fluoxetine (Prozac)
    - Quinidine
  - General Guidelines for Therapeutic Management
- Tick Paralysis
  - Epidemiology
  - Pathophysiology
    - Electrophysiologic Findings
    - Laboratory Findings
    - Diagnosis
- Snakebite Myasthenic Syndrome
  - Pathophysiology
    - Diagnosis
    - Antivenins
    - AChE Inhibitors
    - Supportive Treatment
- Organophosphate Intoxication
  - Pathophysiology
    - Acute Cholinergic Crisis
    - Intermediate Syndrome
    - Organophosphate-Induced Delayed Polyneuropathy
    - Diagnosis
    - Acute Management
    - Atropine
    - Oximes
    - Diazepam
- Hypermagnesemia-Induced Paralysis
- References
Treatment and Management of Muscular Dystrophies
- Dystrophinopathies
  - Duchenne and Becker Muscular Dystrophies
- Molecular Pathogenesis
  - Pathophysiology
    - Dystrophin Protein
    - Primary and Secondary (Downstream) Events
    - Mechanical Membrane Fragility
    - Abnormal Permeability to Calcium and Chronic Increase in Intracellular Calcium
    - Abnormal Immunologic Response
    - Abnormal Signaling Functions
    - Abnormal Fibrosis and Muscle Regeneration
  - Clinical Characteristics
      - Neuromuscular Involvement
      - Respiratory Involvement
      - Cardiac Involvement
      - Neuropsychological Involvement
      - Other Organ Involvement
    - Clinical Characteristics of Becker Muscular Dystrophy
    - Chromosome Xp21 Microdeletion Syndromes
    - Female DMD Carriers and Manifesting Carriers
  - Clinical Laboratory Tests
  - Genetic Testing
  - Muscle Biopsy
  - Pharmacologic Treatment
  - Current Research in Pharmacologic Approaches
    - Gene Repair or Replacement
    - Up-regulation of Compensatory Proteins
    - Modification of Downstream Events
    - Intracellular Calcium
    - Abnormal Immune Response
    - Abnormal Signaling Functions
    - Abnormal Fibrosis and Muscle Regeneration
  - Respiratory Care
  - Cardiac Management
  - Drug Precautions
  - Rehabilitation
  - Contractures
  - Scoliosis
  - Genetic Counseling
  - Emotional and Behavioral Management
- Limb-Girdle Muscular Dystrophies
  - Limb-Girdle Muscular Dystrophy 1C: Caveolinopathy
  - Limb-Girdle Muscular Dystrophy 2A: Calpainopathy
  - Limb-Girdle Muscular Dystrophy 2B: Dysferlinopathy
  - Limb-Girdle Muscular Dystrophies 2C, 2D, 2E, 2F: Sarcoglycanopathies
  - Limb-Girdle Muscular Dystrophy 2I: Fukutin-related Protein (FKRP) Deficiency
  - Limb-Girdle Muscular Dystrophy 1A, 2G, and 2J: Sarcomeric Proteins Deficiency
    - Limb-Girdle Muscular Dystrophy 1A (Myotilinopathy)
    - Limb-Girdle Muscular Dystrophy 2G (Telethonin)
    - Limb-Girdle Muscular Dystrophy 2J (Titin)
- Other Distal Muscular Dystrophies
- Facioscapulohumeral Muscular Dystrophy
  - Clinical Features
  - Myotonic Dystrophy Type 1
    - Molecular Genetics
    - Clinical Features
  - Myotonic Dystrophy Type 2 (DM2)
      - Future Targets for Specific Treatment in Myotonic Dystrophy
- Oculopharyngeal Muscular Dystrophy
- Congenital Muscular Dystrophy
  - Nonsyndromic Congenital Muscular Dystrophies
  - Syndromic Congenital Muscular Dystrophies
- References
Neuromuscular Manifestations of Acquired Metabolic, Endocrine, and Nutritional Disorders
- Endocrine Disorders
  - Diabetes Mellitus; Diabetic Neuropathies
    - Distal Sensorimotor Polyneuropathy
    - Autonomic Neuropathy
    - Acute Painful Neuropathy
    - Diabetic Lumbosacral Plexopathy
    - Compression Neuropathies
    - Cranial Mononeuropathies
      - Isolated Thoracic Radiculopathy
      - Differential Diagnosis
      - Symptomatic Treatment of Diabetes Mellitus
      - Treatment of Autonomic Neuropathy
  - Hyperthyroidism
  - Hypothyroidism
  - Hyperparathyroidism
  - Hypoparathyroidism
  - Cushing Syndrome
  - Hyperaldosteronism
  - Adrenal Insufficiency
- Neuromuscular Complications of Uremia
  - Polyneuropathy
  - Focal Uremic Neuropathies
  - Uremic Myopathy
- Malnutrition and Vitamin Deficiencies
  - Vitamin A
  - Vitamin B1 (Thiamine)
  - Vitamin B3 (Niacin)
  - Vitamin B6 (Pyridoxine)
  - Vitamin B12 (Cobalamin)
  - Folic Acid
  - Vitamin D
  - Vitamin E
  - Copper
  - Strachan Syndrome
- Acknowledgment
- References
Treatment and Management of Autoimmune Myopathies
- Dermatomyositis
- Polymyositis
- Inclusion Body Myositis
- Eosinophilic Syndromes and Fasciitis
  - Causes of Misdiagnosis
  - Immunopathology
    - Immunopathology of Dermatomyositis
    - Immunopathology of Polymyositis and Inclusion Body Myositis
  - Nonimmune Features in the Muscles of Inclusion Body Myositis: Reconciling the Roles of Inflammation and ``Degeneration&rd...
- Treatment and Management of Inflammatory Myopathies
  - Goals of Therapy
  - Treatment of Dermatomyositis and Polymyositis
    - Starting Therapy: The Role of Corticosteroids
    - Steroid Myopathy versus Disease Activity
    - Relapses While on Maintenance Steroid Therapy
    - Use of Steroid-Sparing Regimens in Steroid-Responsive Patients
      - Azathioprine
      - Mycophenolate Mofetil
      - Methotrexate
      - Cyclosporine
    - When Steroids Are Inadequate: The Use of High-Dose Intravenous Immunoglobulin
    - If Steroids and IVIg are Ineffective or Inadequate to Induce Remission
      - Rituximab
      - Cyclophosphamide
      - Tacrolimus
      - Other, Newer Agents
    - Step-by-Step Approach
  - Treatment of Inclusion Body Myositis
    - Supportive Therapy
  - Practical Therapeutic Considerations
  - Outcome
- References
Treatment and Management of Hereditary Metabolic Myopathies
- Muscle Disorders of Glycogen Metabolism
  - Clinical Presentation of Myopathies Caused by Enzyme Defects of Glycogen Metabolism
    - GSD II (Pompe Disease)
    - GSD III
    - GSD IV (Andersen Disease)
    - GSD V (McArdle Disease)
    - GSD VII (Tarui Disease)
    - GSD VIII
    - Other Muscle Glycogenoses
  - Treatment
    - GSD II
    - GSD V
  - Conclusion
- Muscle Disorders of Lipid Metabolism
  - Treatment
  - Outcome
- Mitochondrial Myopathies
    - Clinical Examinations
    - Analysis of Muscle Biopsy
    - Biochemistry
    - Molecular Genetic Investigations
    - Supplementation of Vitamins and Cofactors
    - Gene Therapy and Prevention of Transmission
  - Outcome
- Rhabdomyolysis
- Conclusion
- Suggested Reading
- References

Index

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