NEUROMUSCULAR DISORDERS TREATMENT AND MANAGEMENT

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Front Cover ES1 NEUROMUSCULAR DISORDERS NEUROMUSCULAR DISORDERS: TREATMENT AND MANAGEMENT Copyright Dedication Preface Acknowledgments Contributors Contents 1 - GENERAL PRINCIPLES IN THE TREATMENT AND MANAGEMENT OF NEUROMUSCULAR DISORDERS 1 - Introduction: Evaluation of Patients with Neuromuscular Disorders PHYSICAL EXAMINATION DIAGNOSTIC TESTS ELECTROPHYSIOLOGIC TESTS HISTOLOGIC TESTS IMAGING STUDIES GENETIC TESTING REFERENCES 2 - Respiratory Complications in Neuromuscular Disorders MUSCULAR DYSTROPHIES SPINAL CORD INJURY Persistent Polio Disability and Post-Polio Syndrome Amyotrophic Lateral Sclerosis (ALS) MANAGEMENT OF NEUROMUSCULAR DISEASES RESULTING IN ACUTE HYPERCARBIC RESPIRATORY FAILURE GUILLAIN-BARRÉ SYNDROME MYASTHENIA GRAVIS MISCELLANEOUS CONDITIONS REFERENCES 3 - Cardiac Complications of Neuromuscular Disorders 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 BARTH SYNDROME POMPE DISEASE MITOCHONDRIAL DISORDERS (MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS, MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STR... CONGENITAL MUSCULAR DYSTROPHIES DIAGNOSIS AND EVALUATION ELECTROCARDIOGRAPHY HOLTER MONITORS ECHOCARDIOGRAPHY CARDIAC MAGNETIC RESONANCE IMAGING CARDIAC CATHETERIZATION ELECTROPHYSIOLOGIC TESTING PATHOLOGY TREATMENT CORTICOSTEROIDS MONOTHERAPY IN DMD ANGIOTENSIN-CONVERTING ENZYME INHIBITORS MONOTHERAPY ANGIOTENSIN-CONVERTING ENZYME INHIBITORS AND BETA-BLOCKERS BETA-BLOCKER MONOTHERAPY MINERALCORTICOID RECEPTOR ANTAGONISTS HEART FAILURE ANTICOAGULATION ARRHYTHMIAS CARDIOVERSION PACEMAKER IMPLANTATION LEFT VENTRICULAR ASSIST DEVICES CARDIAC TRANSPLANTATION PREOPERATIVE ASSESSMENT RESPIRATORY THERAPY GENETIC-BASED THERAPIES MONITORING DUCHENNE MUSCULAR DYSTROPHY BECKER MUSCULAR DYSTROPHY LIMB-GIRDLE MUSCULAR DYSTROPHY MYOTONIC DYSTROPHY FRIEDREICH ATAXIA CONGENITAL MUSCULAR DYSTROPHY SUMMARY CONCLUSION REFERENCES 4 - Gastrointestinal Complications of Neuromuscular Disorders INTRODUCTION PHARYNX AND ESOPHAGUS PATHOGENESIS CLINICAL MANIFESTATIONS DYSPHAGIA IN MOTOR NEURON DISORDERS DYSPHAGIA IN PRIMARY MUSCULAR DISORDERS DYSPHAGIA IN PERIPHERAL NEUROPATHY NUTRITION DYSPHAGIA DIAGNOSIS AND EVALUATION MANAGEMENT ROLE OF FEEDING TUBES Contraindications for PEG Placement Gastrostomy in Children Survival after PEG ENTERAL NUTRITION TREATMENT FOR CRICOPHARYNGEAL DYSFUNCTION TREATMENT OPTIONS FOR ASPIRATION STOMACH AND DUODENUM DIAGNOSIS TREATMENT SMALL INTESTINE DIAGNOSIS TREATMENT TREATMENT INCONTINENCE TREATMENT LIVER AND THE HEPATOBILIARY SYSTEM CONCLUSIONS REFERENCES 5 - Autonomic Dysfunction in Neuromuscular Disorders SYMPATHETIC NERVOUS SYSTEM PARASYMPATHETIC NERVOUS SYSTEM ENTERIC 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 THERMOREGULATORY SWEAT TESTING QUANTITATIVE SUDOMOTOR AXON REFLEX TESTING SUMMARY OF AUTONOMIC TESTING TYPES OF AUTONOMIC NEUROPATHY CHRONIC AUTONOMIC NEUROPATHIES 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 HEPATIC DISEASE PORPHYRIA NUTRITIONAL DEFICIENCIES TOXIC AUTONOMIC NEUROPATHIES INFECTIOUS AUTONOMIC NEUROPATHIES DYSAUTONOMIA IN CHRONIC DEMYELINATING POLYRADICULONEUROPATHY DYSAUTONOMIA IN AUTOIMMUNE AUTONOMIC GANGLIONOPATHY DYSAUTONOMIA IN MYASTHENIA GRAVIS BOTULISM AUTONOMIC DISORDERS—OTHER TREATMENT OF ORTHOSTATIC HYPOTENSION PRIMARY THERAPY Fludrocortisone Midodrine Hydrochloride Droxidopa Ephedrine and Pseudoephedrine Vasopressin Analogs Erythropoietin 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 6 - A Practical Approach to the Treatment of Painful Polyneuropathies DEFINITIONS AND OVERVIEW NERVE ANATOMY SODIUM CHANNELS POTASSIUM CHANNELS CALCIUM CHANNELS EVIDENCE-BASED MEDICINE TRICYCLIC ANTIDEPRESSANTS GABAPENTINOIDS TOPICAL LIDOCAINE MEDICAL MARIJUANA ANCILLARY TREATMENTS CONCLUSION CONFLICT OF INTEREST STATEMENT REFERENCES 7 - 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 COMPLEMENT INHIBITORS ANTI–TUMOR NECROSIS FACTOR-Α AGENTS MISCELLANEOUS AGENTS EVIDENCE-BASED MEDICINE AND TREATMENT OF AUTOIMMUNE NEUROMUSCULAR DISORDERS REFERENCES 8 - Rehabilitation in Neuromuscular Disorders MANAGEMENT OF MUSCLE WEAKNESS FLEXIBILITY TRAINING STRENGTHENING EXERCISES AEROBIC EXERCISE BALANCE EXERCISES AND TRAINING EXERCISE RECOMMENDATIONS ORTHOSES AND MOBILITY AIDS ORTHOSES SPINAL ORTHOSES UPPER EXTREMITY ORTHOSES LOWER EXTREMITY LOWER EXTREMITY ROBOTICS CANES, CRUTCHES, AND WALKERS SEATED MOBILITY OPTIONS ORTHOSES AND MOBILITY DEVICES IN PEDIATRICS ASSISTIVE DEVICES FOR FUNCTIONAL MOBILITY SCHOOL AND WORKPLACE MODIFICATIONS ORTHOPEDIC CONSIDERATIONS NEUROMUSCULAR SCOLIOSIS JOINT CONTRACTURES ABNORMALITIES OF THE FEET RESPIRATORY FAILURE DYSARTHRIA IDENTIFICATION DYSARTHRIA IN MOTOR NEURON DISEASES DYSPHAGIA IDENTIFICATION PAIN ASSESSMENT OF PAIN PREVENTION OF PAIN MANAGEMENT OF PAIN ADDITIONAL PAIN MANAGEMENT STRATEGIES MOOD DISORDERS COGNITIVE DYSFUNCTION QUALITY OF LIFE MEASUREMENT ROLE OF THE PROFESSIONAL CARE TEAM ROLES OF THE CAREGIVER AND FAMILY PALLIATIVE CARE AND HOSPICE REFERENCES 9 - Orthopedic Surgery in Neuromuscular Disorders 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 BECKER MUSCULAR DYSTROPHY EMERY-DREIFUSS MUSCULAR DYSTROPHY LIMB-GIRDLE DYSTROPHY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY MYOTONIC DYSTROPHY CAVOVARUS FOOT DEFORMITY Clinical and Radiographic Evaluation Physical Examination Radiographic Examination Orthopedic Treatment HIP DYSPLASIA SPINAL DEFORMITIES CHARCOT-MARIE-TOOTH VARIANTS FRIEDREICH ATAXIA SPINAL MUSCULAR ATROPHY REFERENCES 10 - Perioperative Management of Patients With Neuromuscular Disorders CARDIOVASCULAR ASSESSMENT NUTRITIONAL ASSESSMENT ADVANCE DIRECTIVES INTRAOPERATIVE MANAGEMENT POSTOPERATIVE MANAGEMENT ASSISTIVE COUGH AND AIRWAY CLEARANCE CARDIOVASCULAR MANAGEMENT NUTRITIONAL MANAGEMENT SPINAL MUSCULAR ATROPHY FRIEDREICH ATAXIA PERIPHERAL NEUROPATHIES MYASTHENIA GRAVIS MUSCULAR DYSTROPHIES MYOTONIC DYSTROPHY CHANNELOPATHIES MALIGNANT HYPERTHERMIA SYNDROME TREATMENT AND MANAGEMENT EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT ABDOMINAL SURGERY AND TRANSPLANTATION EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT COMPLICATIONS OF BARIATRIC SURGERY DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT HISTORICAL NOTE CRITICAL ILLNESS POLYNEUROPATHY EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT CRITICAL ILLNESS MYOPATHY EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT REFERENCES 11 - Molecular and Genetic Therapies PREVALENCE OF HEREDITARY NMD OVERVIEW OF GENETICS INHERITANCE PATTERNS GENETIC TESTING IN NMDS METHODS OF GENETIC TESTING (TABLE 11.1) OVERVIEW OF PROTEIN SYNTHESIS RNA-BASED THERAPIES ANTISENSE OLIGONUCLEOTIDES SMALL MOLECULES RNA INTERFERENCE Small Interfering RNAs (SIRNAS) Micro RNAs (miRNAs) DNA-BASED THERAPIES GENE REPLACEMENT GENE EDITING REFERENCES 2 - TREATMENT AND MANAGEMENT OF SPECIFIC NEUROMUSCULAR DISORDERS 12 - Treatment and Management of Adult Motor Neuron Diseases PURE LOWER MOTOR NEURON SYNDROME PURE UPPER MOTOR NEURON SYNDROME PROGRESSIVE BULBAR PALSY FLAIL ARM AND FLAIL LEG FACIAL-ONSET SENSORY AND MOTOR NEURONOPATHY CONFOUNDING FEATURES ELECTRODIAGNOSTIC STUDIES LABORATORY EVALUATIONS HOW TO DELIVER THE DIAGNOSIS TREATMENT AND MANAGEMENT EXPERIMENTAL TRIALS EXERCISE AND PHYSICAL THERAPY NUTRITIONAL MANAGEMENT BREATHING MANAGEMENT SYMPTOMATIC MANAGEMENT EQUIPMENT MANAGEMENT SOCIAL MANAGEMENT MULTIDISCIPLINARY CARE END-OF-LIFE CONSIDERATIONS REFERENCES 13 - Treatment and Management of Spinal Muscular Atrophy and Congenital Myopathies INTRODUCTION DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT FAILURE TO THRIVE AND GASTROENTEROLOGICAL COMPLICATIONS ORTHOPEDIC DEFORMITIES FACIAL AND JAW DEFORMITIES PULMONARY MANAGEMENT WEAK COUGH RECURRENT INFECTIONS ASPIRATION SLEEP-DISORDERED BREATHING PSYCHOSOCIAL ISSUES CURRENT THERAPIES CONGENITAL MYOPATHIES CONCLUSION REFERENCES 14 - Treatment and Management of Hereditary Neuropathies OVERVIEW OF INHERITED NEUROPATHIES DIAGNOSIS OF INHERITED NEUROPATHIES TIME COURSE DISTRIBUTION FIBER TYPES ELECTROPHYSIOLOGY GENETIC STUDIES IMAGING STUDIES TREATMENT THERAPEUTIC PARADIGMS FOR NEUROPATHY GENE REPLACEMENT STRATEGIES ANTISENSE OLIGONUCLEOTIDE AND RNAI-BASED APPROACHES (THIS AND GENE THERAPY ARE DISCUSSED IN DETAIL IN CHAPTER 11) SMALL MOLECULE APPROACHES GENE EDITING MECHANISM AGNOSTIC APPROACHES CLINICAL DEVELOPMENT CLINICAL PRESENTATION DIAGNOSIS TREATMENT EXPERIMENTAL THERAPIES FOR CMT: A GROWING PIPELINE OF TARGETED THERAPIES HEREDITARY MOTOR NEUROPATHIES (HMNS) CLINICAL PRESENTATION DIAGNOSIS TREATMENT SYNDROMIC INHERITED NEUROPATHIES CLINICAL PRESENTATION DIAGNOSIS TREATMENT FRIEDREICH ATAXIA CLINICAL PRESENTATION DIAGNOSIS EMERGING TREATMENTS Approaches to Increase Mitochondrial Function or Decrease Oxidative Stress Increase the Expression of FXN Gene or Replace FXN Symptomatic Approaches LYSOSOMAL STORAGE DISEASES: FABRY DISEASE CLINICAL PRESENTATION DIAGNOSIS TREATMENT DIAGNOSIS TREATMENT ADRENOLEUKODYSTROPHY/ADRENOMYELONEUROPATHY: CLINICAL PRESENTATION ADRENOLEUKODYSTROPHY/ADRENOMYELONEUROPATHY: DIAGNOSIS ADRENOLEUKODYSTROPHY/ADRENOMYELONEUROPATHY: TREATMENT REFSUM DISEASE: CLINICAL PRESENTATION, DIAGNOSIS, AND TREATMENT DIAGNOSIS TREATMENT CONCLUSIONS REFERENCES 15 - Treatment and Management of Autoimmune Neuropathies INTRODUCTION GUILLAIN-BARRÉ SYNDROME SUBTYPES PATHOGENESIS ELECTROPHYSIOLOGY DIAGNOSIS TREATMENT PATHOLOGY CLASSIFICATION ELECTROPHYSIOLOGY SUBTYPES OF CIDP ATYPICAL CIDP SUBTYPES NODOPATHIES DIAGNOSIS NEUROIMAGING MEASURES OF DISEASE ACTIVITY DIFFERENTIAL DIAGNOSIS PITFALLS IN THE DIAGNOSIS OF CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY EMERGING THERAPIES DISEASE FOLLOW-UP REFERENCES 16 - Treatment and Management of Infectious, Granulomatous, and Toxic Neuromuscular Disorders INFECTIONS OF NERVE AND MUSCLE DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT WEST NILE VIRUS NEUROINVASIVE DISEASE DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT SARS-COV-2 INFECTION (COVID-19) DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT LEPROUS NEUROPATHY DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT Other Viral Myopathies Parasitic Myositis DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT TOXIC NEUROPATHIES AND MYOPATHIES TOXIC NEUROPATHIES DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT Thallium DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT Lead DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT Hexacarbon Neuropathy Alcoholic Neuropathy DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT MEDICATION-INDUCED NEUROPATHIES CHEMOTHERAPY-INDUCED PERIPHERAL NEUROPATHY TREATMENT AND MANAGEMENT Tumor Necrosis Factor-α Antagonists Antiretroviral Agents Steroid Myopathy Alcoholic Myopathy Nucleoside Analog–Induced Myopathy Antimicrotubular Myopathy (Colchicine Myopathy) Chloroquine Neuromyopathy Immune Checkpoint Inhibitors OTHER MEDICATIONS BIOLOGIC TOXINS DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT Ciguatera REFERENCES 17 - 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 EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT LUMBOSACRAL RADICULOPATHY CLINICAL SIGNS AND SYMPTOMS EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT PLEXOPATHIES EVALUATION AND DIAGNOSIS DISORDERS OF THE BRACHIAL PLEXUS Neuralgic Amyotrophy Radiation and Neoplastic Plexopathies Postoperative Brachial Plexopathy Traumatic Plexopathies Thoracic Outlet Syndrome EVALUATION AND DIAGNOSIS OF BRACHIAL PLEXOPATHY TREATMENT AND MANAGEMENT OF BRACHIAL PLEXOPATHY DISORDERS OF THE LUMBOSACRAL PLEXUS Inflammatory/Microvasculitic Painless Proximal Diabetic Neuropathy Radiation and Neoplastic Plexopathies Other Etiologies EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT FOCAL NEUROPATHIES FOCAL NEUROPATHY SYNDROMES CLINICAL SIGNS AND SYMPTOMS EVALUATION AND DIAGNOSIS TREATMENT AND MANAGEMENT ULNAR NEUROPATHY AT THE ELBOW CLINICAL PATHOANATOMY CLINICAL SIGNS AND SYMPTOMS EVALUATION AND DIAGNOSIS TREATMENT ULNAR NEUROPATHY NOT AT THE ELBOW RADIAL NEUROPATHY REFERENCES 18 - Treatment and Management of Disorders of Neuromuscular Hyperexcitability and Periodic Paralysis CENTRAL DISORDERS CLINICAL PRESENTATION DIAGNOSIS AND EVALUATION Autoantibodies in SPS (Fig. 18.3, Table 18.1) TREATMENT AND MANAGEMENT TETANUS CLINICAL PRESENTATION DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT MORVAN SYNDROME CRAMP-FASCICULATION SYNDROME TREATMENT AND MANAGEMENT PRIMARY DISORDERS OF MUSCLE DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT MUSCLE CHANNELOPATHIES Potassium-Aggravated Myotonias Schwartz-Jampel Syndrome TREATMENT AND MANAGEMENT OF NONDYSTROPHIC MYOTONIAS PERIODIC PARALYSIS Hypokalemic Periodic Paralysis Andersen-Tawil Syndrome Secondary Periodic Paralysis PROVOCATIVE TESTS TREATMENT AND MANAGEMENT OF PERIODIC PARALYSIS MANAGEMENT OF ACUTE ATTACKS PREVENTION OF ATTACKS TREATMENT AND MANAGEMENT OF ANDERSEN-TAWIL SYNDROME BRODY DISEASE METABOLIC MYOPATHIES REFERENCES 19 - Treatment and Management of Disorders of the Neuromuscular Junction MYASTHENIA GRAVIS DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT MYASTHENIC CRISIS THYMOMA DIAGNOSIS AND EVALUATION BOTULISM PATHOPHYSIOLOGY CONGENITAL MYASTHENIC SYNDROME TREATMENT AND MANAGEMENT SNAKEBITE MYASTHENIC SYNDROME CLINICAL MANIFESTATION PATHOPHYSIOLOGY TREATMENT AND MANAGEMENT ORGANOPHOSPHATE INTOXICATION PATHOPHYSIOLOGY CLINICAL MANIFESTATION TREATMENT AND MANAGEMENT HYPERMAGNESEMIA-INDUCED PARALYSIS DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT REFERENCES 20 - Treatment and Management of Muscular Dystrophies1 MOLECULAR PATHOGENESIS . The normal DMD gene creates a 14-kb dystrophin mRNA that encodes dystrophin, a 427-kDa protein. Dystrophin localizes to the su... Clinical Characteristics . Pulmonary function becomes compromised because of weakness of intercostal and diaphragmatic muscles and severe scoliosis. It o... . Boys with DMD are at risk for cardiomyopathy, especially if they have deletion of exons 48 to 53 (Nigro, Politano, Nigro, Petr... . Overall, the IQ curve in boys with DMD is shifted to the left (Ogasawara, 1989). The mean IQ score in one study was 83 (range,... . Rarely, gastrointestinal tract involvement associated with smooth muscle dysfunction causes megacolon, volvulus, abdominal cra... Clinical Laboratory Tests Genetic Testing Muscle Biopsy TREATMENT AND MANAGEMENT Stop Codon-Read-Through Mutation Suppression Approach Exon Skipping Using Antisense Oligonucleotides Other Therapies in Development Respiratory Care Cardiac Management Drug Precautions Rehabilitation Genetic Counseling Emotional and Behavioral Management LIMB-GIRDLE MUSCULAR DYSTROPHIES LIMB-GIRDLE MUSCULAR DYSTROPHY 2I: FUKUTIN-RELATED PROTEIN DEFICIENCY LIMB-GIRDLE MUSCULAR DYSTROPHIES TYPE 2L (LIMB-GIRDLE MUSCULAR DYSTROPHY R12 ANOCTAMIN 5 RELATED) Limb-Girdle Muscular Dystrophy 2G (Telethonin) Limb-Girdle Muscular Dystrophy 2J (Titin) LIMB-GIRDLE MUSCULAR DYSTROPHY 1C: CAVEOLINOPATHY Other Distal Muscular Dystrophies EMERY-DREIFUSS MUSCULAR DYSTROPHY TREATMENT AND MANAGEMENT CLINICAL FEATURES DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT MYOTONIC DYSTROPHY Molecular Genetics Clinical Features Diagnosis and Evaluation MYOTONIC DYSTROPHY TYPE 2 TREATMENT AND MANAGEMENT CONGENITAL MUSCULAR DYSTROPHY REFERENCES 21 - 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 DIAGNOSIS AND EVALUATION Differential Diagnosis TREATMENT AND MANAGEMENT Symptomatic Treatment of Diabetic Neuropathy Treatment of Autonomic Neuropathy HYPERTHYROIDISM DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT HYPOTHYROIDISM DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT HYPERPARATHYROIDISM DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT HYPOPARATHYROIDISM DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT CUSHING SYNDROME DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT HYPERALDOSTERONISM DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT ADRENAL INSUFFICIENCY DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT POLYNEUROPATHY DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT FOCAL UREMIC NEUROPATHIES DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT AUTONOMIC NEUROPATHY DIAGNOSIS AND MANAGEMENT UREMIC MYOPATHY DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN A DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN B1 (THIAMINE) DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN B3 (NIACIN) DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN B6 (PYRIDOXINE) DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN B12 (COBALAMIN) DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT FOLIC ACID DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN D DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT VITAMIN E DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT COPPER DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT STRACHAN SYNDROME DIAGNOSIS AND EVALUATION TREATMENT AND MANAGEMENT REFERENCES 22 - Treatment and Management of Autoimmune Myopathies DERMATOMYOSITIS POLYMYOSITIS NECROTIZING AUTOIMMUNE MYOSITIS (ALSO REFERRED TO AS IMMUNE-MEDIATED NECROTIZING MYOPATHY) ANTISYNTHETASE SYNDROME” OR “OVERLAP MYOSITIS” OR “ANTI-JO-1 SYNDROME” INCLUSION BODY MYOSITIS DIAGNOSIS AND EVALUATION CAUSES OF MISDIAGNOSIS IMMUNOPATHOLOGY IMMUNOPATHOLOGY OF DERMATOMYOSITIS IMMUNOPATHOLOGY OF POLYMYOSITIS AND INCLUSION BODY MYOSITIS IMMUNOPATHOLOGY OF NECROTIZING AUTOIMMUNE MYOSITIS PRESENCE OF AUTOANTIBODIES NONIMMUNE FEATURES IN THE MUSCLES OF INCLUSION BODY MYOSITIS: RECONCILING THE ROLES OF INFLAMMATION AND “DEGENERATION” 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 INTRAVENOUS IMMUNOGLOBULIN 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 23 - Treatment and Management of Hereditary Metabolic Myopathies GLYCOGEN STORAGE DISEASE III GLYCOGEN STORAGE DISEASE IV (ANDERSEN DISEASE) GLYCOGEN STORAGE DISEASE V (MCARDLE DISEASE) GLYCOGEN STORAGE DISEASE VII (TARUI DISEASE) GLYCOGEN STORAGE DISEASE OTHER MUSCLE GLYCOGENOSES DIAGNOSIS AND EVALUATION GLYCOGEN STORAGE DISEASE V CONCLUSION CLINICAL PRESENTATION DIAGNOSIS AND EVALUATION TREATMENT OUTCOME MITOCHONDRIAL MYOPATHIES CLINICAL PRESENTATION ANALYSIS OF MUSCLE BIOPSY BIOCHEMISTRY MOLECULAR GENETIC INVESTIGATIONS TREATMENT AND MANAGEMENT SUPPLEMENTATION OF VITAMINS AND COFACTORS SYMPTOMATIC TREATMENT GENE THERAPY AND PREVENTION OF TRANSMISSION OUTCOME RHABDOMYOLYSIS CONCLUSION SUGGESTED READINGS REFERENCES Index A B C D E F G H I J K L M O P Q R S T U V W X Z ES2