Historical Background Patients with neuromuscular diseases may present with cardiac dysfunction, arrhythmia, or respiratory failure. Information in the literature regarding intensive care for these patients continues to evolve and single institution results have been published. Standards of care have been…
Introduction Acute neuromuscular disorders occasionally confront the pediatric intensivist and/or the pediatric neurologist. Many of these are primary disorders of the motor unit that present acutely and may require urgent admission to a neurologic critical care unit. We have chosen…
Introduction Patients with idiopathic inflammatory myopathies (IIM) manifest a diverse group of syndromes that have in common the loss of muscle function as a disease symptom. The symptoms of inflammatory muscle disease in children can be characterized as either acute…
Introduction Historical Background The history of mitochondria can be traced back at least to 1850 when Kolliker described a regular array of subcellular particles in muscle sarcomeres. Fifty-two years were to pass before Luft and colleagues implicated mitochondria as the…
Historical Background Defects in fatty acid oxidation (FAO) are an important group of disorders because they are potentially rapidly fatal and a source of major morbidity. They encompass a spectrum of clinical disorders including progressive lipid storage myopathy, recurrent myoglobinuria,…
Introduction and Background Metabolic myopathies are clinical disorders in which defects of adenosine triphosphate (ATP) production cause muscle dysfunction. A review of muscle metabolism is beyond the scope of this chapter and readers are referred to other reviews for further…
Introduction Defective ion channels may play a causal role in disease pathogenesis. This implication was first concluded from the observation of an abnormal ion conductance in muscle fibers biopsied from myotonic goats. In humans, a similar conclusion was reached for…
Clinical Presentation and Phenotypes Brief Overview of History and Epidemiology In 1909, Hans Steinert (Leipzig, Germany) described the typical pattern of muscle weakness and myotonia in adult-onset myotonic dystrophy type 1 (DM1). Over subsequent years, clinical studies demonstrated dominant inheritance…
Introduction When evaluating a child with myopathy, the clinician must not only determine the pattern and extent of muscle weakness but also the cause. In addition to the many primary disorders of muscle, there are many systemic diseases that produce…
Introduction Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder presenting in childhood or adolescence with relatively benign neuromuscular features and potentially fatal cardiac involvement. It is characterized by the triad of (1) early contractures of the Achilles tendons, elbows,…