Recent advances in the understanding of the genetics and basic mechanisms of neuromuscular diseases have been both rapid and spectacular. Furthermore, these advances have resulted in an expansion of the methods used for diagnosis—from routine clinical histologic and electrophysiologic tests to more specific techniques, such as biochemical and Western Blot analysis, and, most important, molecular genetic testing. These modern techniques have begun to replace more costly and painful procedures for some patients.
Innovations in the field of molecular genetics have led to the identification of certain protein deficiencies and thus to the design of replacement therapy for some conditions. Examples include enzyme replacement with recombinant alpha-glucosidase for Pompe disease and agalsidase for Fabry disease. Another important advance in the understanding of neuromuscular disorders has been the recognition of the pathways of the cascade of immune mechanisms of autoimmune diseases. This understanding allows us to treat these disorders with newer immunosuppressants and selective monoclonal antibodies that target specific molecules of this cascade. These treatments hold promise for better patient care, but more knowledge of possible adverse effects is needed. At times monoclonal antibodies have been found to cause autoimmune disorders, further complicating therapy.
Although the goal of our specialty is to find cures or effective treatments for neuromuscular disorders, the management of symptoms to improve quality of life is still paramount. The control of pain in the treatment of dysautonomic symptoms and the management of muscle hyperactivity in the myotonias are examples.
Ambulation and survival can be prolonged with well-planned rehabilitation programs, orthopaedic surgery, and proper early management of cardiac, respiratory, and gastrointestinal complications, particularly in patients with motor neuron diseases and muscular dystrophy. Prolonged survival has changed the care of these patients. For example, in the past patients with Duchenne muscular dystrophy generally died of respiratory failure before they developed symptomatic cardiac disease; now they are living longer and require aggressive treatment of their cardiac complications to further prolong their lives.
Many excellent textbooks and treatises dedicated to the understanding of the basic mechanisms of clinical and laboratory diagnoses of neuromuscular diseases also include discussions of treatment but this information is not comprehensive. In this text we aim to cover the current treatment and management of these subjects and to discuss promising experimental therapies. Also included are discussions of the prevention and treatment of neuromuscular complications of medical conditions and surgery.
The introductory chapter is a brief overview of the approach to diagnosis and treatment in patients with neuromuscular disease—information that we hope will be helpful to young clinicians. The next several chapters discuss complications of neuromuscular disorders and their general management, such as rehabilitation, orthopaedic surgery, and cardiac, gastrointestinal, and respiratory care, as well as the treatment of painful neuropathy and dysautonomia. The balance of the chapters cover specific diseases as well as the basic mechanisms of these disorders.
The information in each chapter is intended to complement that in others, although occasionally there are minor repetitions. When possible, evidence-based treatment recommendations are given, particularly for the more common conditions, though we emphasize that the treatment of all patients should be individualized. For less common disorders, for which controlled trials have not yet been published, recommendations are based on published information and the authors’ experience.
I am honored and grateful for the collaboration of an excellent group of renowned specialists. They have generously contributed their time and expertise to make what we hope is a textbook that is useful for all physicians who care for patients with neuromuscular disorders.
-- Tulio E. Bertorini, MD
Key Features
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Contents
Part I - General Principles in the Treatment and Management of Neuromuscular Disorders
Chapter 1 - Introduction: Evaluation of Patients with NeuromuscularDisorders
- Medical History and Symptoms
- Physical Examination
- Diagnostic Tests
- Electrophysiologic Tests
- Histologic Tests
- References
Chapter 2 - Respiratory Complications in Neuromuscular Disorders
- Management of Neuromuscular Diseases Resulting in Chronic Respiratory Failure
- Management of Neuromuscular Diseases Resulting in Acute Respiratory Failure
- Acute Exacerbations of Chronic Neuromuscular Respiratory Failure
Chapter 3 - 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
- Diagnosis and Evaluation
- Pathology
- Treatment
- Preoperative Assessment
- Experimental Therapies
- Monitoring
- Summary
- Conclusion
Chapter 4 - Gastrointestinal Complications of Neuromuscular Disorders
- Pharynx and Esophagus
- Stomach and Duodenum
- Small Intestine
- Large Intestine and Anal Sphincter
- Peripheral Neuropathy and the Gastrointestinal System
Chapter 5 - Autonomic Dysfunction in Neuromuscular Disorders
- Overview of the Autonomic Nervous System
- Evaluation of the Autonomic Nervous System
- Types of Autonomic Neuropathy
- Symptomatic Treatment of Autonomic Disorders
Chapter 6 - A Practical Approach to the Treatment of Painful Polyneuropathies
- Definitions and Overview
- Nerve Anatomy
- Overview of Peripheral Neuropathic Pain Pathophysiology
- 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
- “Second-Line” Neuropathic Pain Treatments
- Ancillary Treatments
Chapter 7 - Principles and Guidelines of Immunotherapy in Neuromuscular Disorders
- Basics of the Immune Response
- Autoimmunity
- Immunotherapy
- Evidence-Based Medicine and Treatment of Autoimmune Neuromuscular Disorders
Chapter 8 - Rehabilitation in Neuromuscular Disorders
- Management of Muscle Weakness
- Orthoses and Mobility Aids
- Assistive Devices for Activities of Daily Living
- Environmental Evaluations and Modifications
- Orthopedic Considerations
- Respiratory Failure
- Dysarthria
- Dysphagia
- Pain
- Mood Disorders
- Cognitive Dysfunction
- Quality of Life
- Roles of the Caregiver and Family
- Palliative Care
Chapter 9 - Orthopedic Surgery in Neuromuscular Disorders
- Muscular Dystrophy
- Hereditary Motor and Sensory Neuropathies
Chapter 10 - Perioperative Management of Patients with Neuromuscular Disorders
- Perioperative Management in Specific Neuromuscular Disorders
- Malignant Hyperthermia Syndrome
- Complications of Major Surgery and Organ Transplantation
- Neuromuscular Disorders Acquired in the Intensive Care Unit
Part II - Treatment and Management of Specific Neuromuscular Disorders
Chapter 11 - Treatment and Management of Adult Motor Neuron Diseases- Diagnosis and Evaluation
- Treatment and Management
- Diagnosis and Evaluation
- Treatment and Management
- Novel Therapies
- Hereditary Motor and Sensory Neuropathies
- Hereditary Motor Neuropathy
- Hereditary Sensory and Autonomic Neuropathies
- Familial Amyloidic Polyneuropathy
- Friedreich Ataxia and Other Spinocerebellar Ataxias
- Inherited Dyslipidemic Neuropathies
- Lysosomal Storage Diseases: Fabry Disease
- Lysosomal Leukodystrophies: Metachromatic Leukodystrophy and Krabbe Disease
- Peroxisomal Disorders: Adrenomyeloneuropathy and Refsum Disease
- Porphyric Neuropathy
- Guillain-Barre Syndrome
- Chronic Inflammatory Demyelinating Polyradiculoneuropathy
- Multifocal Motor Neuropathy
- Lewis-Sumner Syndrome
- Paraproteinemic Neuropathies: Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Monoclonal Gammopathy of Undetermined Significance
- Paraproteinemic Neuropathies: Primary Systemic Amyloidosis
- Paraproteinemic Neuropathies: POEMS Syndrome (Osteosclerotic Myeloma)
- Vasculitis
- Cryoglobulinemia
- Nonvasculitic Neuropathies Associated with Connective Tissue Disease
- Autoimmune Lumbosacral Plexopathy
- Autoimmune Brachial Plexopathy
- Celiac Disease
- Paraneoplastic Sensory Neuronopathy
- Infections of Nerve and Muscle
- Granulomatous Diseases of Nerve and Muscle
- Toxic Neuropathies and Myopathies
- Radiculopathy
- Plexopathies
- Focal Neuropathies
- Focal Neuropathy Syndromes
- Central Disorders
- Disorders of Peripheral Nerve Hyperexcitability
- Primary Disorders of Muscle
- Myasthenia Gravis
- Lambert-Eaton Myasthenic Syndrome
- Botulism
- Congenital Myasthenic Syndromes
- Tick Paralysis
- Snakebite Myasthenic Syndrome
- Organophosphate Intoxication
- Hypermagnesemia-Induced Paralysis
- Dystrophinopathies
- Limb-Girdle Muscular Dystrophies
- Other Distal Muscular Dystrophies
- Emery-Dreifuss Muscular Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Myotonic Dystrophy
- Oculopharyngeal Muscular Dystrophy
- Congenital Muscular Dystrophy
- Endocrine Disorders
- Neuromuscular Complications of Uremia
- Malnutrition and Vitamin Deficiencies
- Dermatomyositis
- Polymyositis
- Inclusion Body Myositis
- Eosinophilic Syndromes and Fasciitis
- Diagnosis and Evaluation
- Treatment and Management of Inflammatory Myopathies
- Muscle Disorders of Glycogen Metabolism
- Muscle Disorders of Lipid Metabolism
- Mitochondrial Myopathies
- Rhabdomyolysis
About the Author
- Tulio E. Bertorini, MD Professor of Neurology and Pathology, University of Tennessee, Center for the Health Sciences, Memphis, Chief of Neurology, Methodist University Hospital, Director, Wesley Neurology Clinic and Muscular Dystrophy and ALS Clinic, Memphis, Tennessee.
Product Details
- Hardcover: 472 pages
- Publisher: Saunders; 1 Har/Psc edition (2011)
- Language: English
- ISBN-10: 1437703720
- ISBN-13: 978-1437703726
- Product Dimensions: 11.1 x 8.7 x 0.9 inches
List Price: $199.00