Neuromuscular Disorders

Neuromuscular disorders (NMDs) include both inherited and acquired diseases of the peripheral nervous system. These encompass a wide variety of conditions affecting the anterior horn cell, such as spinal muscular atrophy; the peripheral nerve, including GuillainBarrè syndrome and CharcotMarieTooth; the neuromuscular junction, such as myasthenia gravis or congenital myasthenic syndrome; or the muscle, as seen in myopathies or muscular dystrophies such as Duchenne muscular dystrophy. In many of these disorders, there can be involvement of other organ systems, either related to the condition itself or as a secondary complication due to disease progression. Several of these conditions have targeted treatments with recent scientific advances, thereby increasing the longevity of children with NMDs. This chapter describes the essential portions of the neuromuscular examination, the initial diagnostic workup, and directed therapeutic options for specific conditions when available, and provides recommendations for medical management, therapy, rehabilitation strategies, and multidisciplinary care.