Neurology

14.

Muscle Diseases

14.1.

Normal Muscle Structure and Function

14.1.1.

Muscle Fiber Types

14.1.2.

Contractile Proteins

14.1.3.

Energy Metabolism

14.1.4.

Excitation-Contraction Coupling

14.2.

Classification of Myopathies

14.2.1.

Inherited Myopathies

14.2.2.

Acquired Myopathies

14.2.3.

Inflammatory Myopathies

14.2.4.

Metabolic Myopathies

14.2.5.

Toxic Myopathies

14.3.

Muscular Dystrophies

14.3.1.

Dystrophinopathies

14.3.1.1.

Duchenne Muscular Dystrophy

14.3.1.1.1.

14.3.1.1.1.1.

Dystrophin Gene

14.3.1.1.1.2.

X-Linked Inheritance

14.3.1.1.1.3.

14.3.1.1.2.

Pathophysiology

14.3.1.1.2.1.

Dystrophin Function

14.3.1.1.2.2.

Membrane Instability

14.3.1.1.2.3.

Muscle Degeneration

14.3.1.1.3.

Clinical Features

14.3.1.1.3.1.

14.3.1.1.3.2.

Progressive Weakness

14.3.1.1.3.3.

Pseudohypertrophy

14.3.1.1.3.4.

14.3.1.1.3.5.

Cardiac Involvement

14.3.1.1.3.6.

Respiratory Involvement

14.3.1.1.3.7.

Cognitive Impairment

14.3.1.1.4.

14.3.1.1.4.1.

Clinical Criteria

14.3.1.1.4.2.

Creatine Kinase

14.3.1.1.4.3.

Genetic Testing

14.3.1.1.4.4.

14.3.1.1.4.5.

Immunohistochemistry

14.3.1.1.5.

14.3.1.1.5.1.

Corticosteroids

14.3.1.1.5.2.

Cardiac Monitoring

14.3.1.1.5.3.

Respiratory Support

14.3.1.1.5.4.

Physical Therapy

14.3.1.1.5.5.

Orthopedic Management

14.3.1.1.5.6.

Emerging Therapies

14.3.1.1.5.6.1.

14.3.1.1.5.6.2.

14.3.1.1.5.6.3.

Utrophin Upregulation

14.3.1.2.

Becker Muscular Dystrophy

14.3.1.2.1.

14.3.1.2.2.

Pathophysiology

14.3.1.2.3.

Clinical Features

14.3.1.2.4.

14.3.1.2.5.

14.3.2.

Limb-Girdle Muscular Dystrophies

14.3.2.1.

LGMD1 (Autosomal Dominant)

14.3.2.2.

LGMD2 (Autosomal Recessive)

14.3.2.3.

Clinical Features

14.3.2.4.

14.3.2.5.

14.3.3.

Facioscapulohumeral Dystrophy

14.3.3.1.

14.3.3.1.1.

D4Z4 Repeat Contraction

14.3.3.1.2.

DUX4 Expression

14.3.3.2.

Clinical Features

14.3.3.2.1.

Facial Weakness

14.3.3.2.2.

Scapular Winging

14.3.3.2.3.

Asymmetric Weakness

14.3.3.3.

14.3.3.4.

14.3.4.

Myotonic Dystrophies

14.3.4.1.

Myotonic Dystrophy Type 1

14.3.4.1.1.

14.3.4.1.1.1.

14.3.4.1.1.2.

CTG Repeat Expansion

14.3.4.1.2.

Pathophysiology

14.3.4.1.2.1.

14.3.4.1.2.2.

Splicing Defects

14.3.4.1.3.

Clinical Features

14.3.4.1.3.1.

14.3.4.1.3.2.

Distal Weakness

14.3.4.1.3.3.

Multisystem Involvement

14.3.4.1.3.3.1.

Cardiac Conduction Defects

14.3.4.1.3.3.2.

14.3.4.1.3.3.3.

Endocrine Abnormalities

14.3.4.1.3.3.4.

Cognitive Impairment

14.3.4.1.4.

14.3.4.1.5.

14.3.4.2.

Myotonic Dystrophy Type 2

14.3.4.2.1.

14.3.4.2.2.

Clinical Features

14.3.4.2.3.

14.3.4.2.4.

14.3.5.

Emery-Dreifuss Muscular Dystrophy

14.3.5.1.

14.3.5.2.

Clinical Features

14.3.5.3.

14.3.5.4.

14.3.6.

Oculopharyngeal Muscular Dystrophy

14.3.6.1.

14.3.6.2.

Clinical Features

14.3.6.3.

14.3.6.4.

14.4.

Congenital Myopathies

14.4.1.

Central Core Disease

14.4.1.1.

14.4.1.2.

14.4.1.3.

Clinical Features

14.4.1.4.

14.4.2.

Nemaline Myopathy

14.4.2.1.

14.4.2.2.

14.4.2.3.

Clinical Features

14.4.2.4.

14.4.3.

Centronuclear Myopathy

14.4.3.1.

14.4.3.2.

14.4.3.3.

Clinical Features

14.4.3.4.

14.4.4.

Multi-Minicore Disease

14.4.4.1.

14.4.4.2.

14.4.4.3.

Clinical Features

14.4.4.4.

14.5.

Inflammatory Myopathies

14.5.1.

Dermatomyositis

14.5.1.1.

Pathophysiology

14.5.1.1.1.

Complement-Mediated Vasculopathy

14.5.1.1.2.

Type I Interferon Pathway

14.5.1.2.

Clinical Features

14.5.1.2.1.

Skin Manifestations

14.5.1.2.1.1.

Heliotrope Rash

14.5.1.2.1.2.

Gottron's Papules

14.5.1.2.1.3.

14.5.1.2.1.4.

14.5.1.2.2.

Muscle Weakness

14.5.1.2.3.

Extramuscular Manifestations

14.5.1.2.3.1.

Interstitial Lung Disease

14.5.1.2.3.2.

Cardiac Involvement

14.5.1.2.3.3.

Malignancy Association

14.5.1.3.

14.5.1.3.1.

Clinical Criteria

14.5.1.3.2.

Laboratory Tests

14.5.1.3.2.1.

14.5.1.3.2.2.

14.5.1.3.3.

14.5.1.3.4.

14.5.1.4.

14.5.1.4.1.

Corticosteroids

14.5.1.4.2.

Immunosuppressive Agents

14.5.1.4.3.

14.5.1.4.4.

Supportive Care

14.5.2.

14.5.2.1.

Pathophysiology

14.5.2.1.1.

T-Cell Mediated

14.5.2.1.2.

Endomysial Inflammation

14.5.2.2.

Clinical Features

14.5.2.2.1.

Proximal Weakness

14.5.2.2.2.

14.5.2.2.3.

Extramuscular Features

14.5.2.3.

14.5.2.3.1.

Clinical Criteria

14.5.2.3.2.

Laboratory Tests

14.5.2.3.3.

14.5.2.4.

14.5.2.4.1.

Corticosteroids

14.5.2.4.2.

Immunosuppressive Agents

14.5.3.

Inclusion Body Myositis

14.5.3.1.

Pathophysiology

14.5.3.1.1.

Degenerative and Inflammatory

14.5.3.1.2.

Protein Aggregation

14.5.3.2.

Clinical Features

14.5.3.2.1.

Asymmetric Weakness

14.5.3.2.2.

Distal Involvement

14.5.3.2.3.

Finger Flexor Weakness

14.5.3.2.4.

Quadriceps Weakness

14.5.3.3.

14.5.3.3.1.

Clinical Criteria

14.5.3.3.2.

14.5.3.3.3.

Characteristic Inclusions

14.5.3.4.

14.5.3.4.1.

Limited Response to Treatment

14.5.3.4.2.

Supportive Care

14.5.4.

Necrotizing Myopathy

14.5.4.1.

Immune-Mediated Necrotizing Myopathy

14.5.4.2.

Statin-Associated Myopathy

14.5.4.3.

Anti-SRP Myopathy

14.5.4.4.

Anti-HMGCR Myopathy

14.5.4.5.

Clinical Features

14.5.4.6.

14.5.4.7.

14.6.

Metabolic Myopathies

14.6.1.

Glycogen Storage Diseases

14.6.1.1.

Pompe Disease (GSD II)

14.6.1.1.1.

14.6.1.1.2.

Pathophysiology

14.6.1.1.3.

Clinical Features

14.6.1.1.3.1.

14.6.1.1.3.2.

Late-Onset Form

14.6.1.1.4.

14.6.1.1.5.

14.6.1.1.5.1.

Enzyme Replacement Therapy

14.6.1.2.

McArdle Disease (GSD V)

14.6.1.2.1.

14.6.1.2.2.

Clinical Features

14.6.1.2.3.

14.6.1.2.4.

14.6.1.3.

Phosphofructokinase Deficiency (GSD VII)

14.6.1.4.

Other Glycogen Storage Diseases

14.6.2.

Lipid Storage Myopathies

14.6.2.1.

Carnitine Palmitoyltransferase II Deficiency

14.6.2.1.1.

14.6.2.1.2.

Clinical Features

14.6.2.1.3.

14.6.2.1.4.

14.6.2.2.

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

14.6.2.3.

Other Lipid Storage Disorders

14.6.3.

Mitochondrial Myopathies

14.6.3.1.

Mitochondrial DNA Mutations

14.6.3.2.

Nuclear DNA Mutations

14.6.3.3.

Clinical Features

14.6.3.3.1.

Exercise Intolerance

14.6.3.3.2.

Muscle Weakness

14.6.3.3.3.

Multisystem Involvement

14.6.3.4.

14.6.3.4.1.

14.6.3.4.2.

Genetic Testing

14.6.3.4.3.

Biochemical Studies

14.6.3.5.

14.6.3.5.1.

Supportive Care

14.6.3.5.2.

14.6.3.5.3.

Exercise Training

14.7.

Endocrine Myopathies

14.7.1.

Thyroid Myopathy

14.7.1.1.

Hyperthyroid Myopathy

14.7.1.2.

Hypothyroid Myopathy

14.7.1.3.

Clinical Features

14.7.1.4.

14.7.1.5.

14.7.2.

Steroid Myopathy

14.7.2.1.

Cushing's Syndrome

14.7.2.2.

Exogenous Steroids

14.7.2.3.

Clinical Features

14.7.2.4.

14.7.3.

Other Endocrine Myopathies

14.7.3.1.

Hyperparathyroidism

14.7.3.2.

Hypoparathyroidism

14.7.3.3.

Adrenal Insufficiency

14.8.

Toxic Myopathies

14.8.1.

Drug-Induced Myopathies

14.8.1.1.

14.8.1.2.

14.8.1.3.

14.8.1.4.

14.8.1.5.

Corticosteroids

14.8.2.

Alcohol-Related Myopathy

14.8.2.1.

Acute Alcoholic Myopathy

14.8.2.2.

Chronic Alcoholic Myopathy

14.8.3.

Other Toxic Myopathies

14.9.

14.9.1.

14.9.1.1.

Traumatic Causes

14.9.1.2.

Non-Traumatic Causes

14.9.1.3.

14.9.1.4.

Metabolic Causes

14.9.2.

Pathophysiology

14.9.3.

Clinical Features

14.9.4.

14.9.4.1.

Creatine Kinase

14.9.4.2.

14.9.4.3.

Electrolyte Abnormalities

14.9.5.

14.9.5.1.

Fluid Resuscitation

14.9.5.2.

14.9.5.3.

14.9.5.4.

Complications Management

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