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LEARNING OBJECTIVES
Upon completion of this chapter, the reader will be able to:
Describe the expected clinical presentation, natural history, and medical management of different types of muscular dystrophy or spinal muscular atrophy (SMA).
List appropriate tests and measures for children with muscular dystrophy or SMA.
Describe potential physical therapy interventions in children with muscular dystrophy or SMA.
Provide a rationale for the use of specific interventions based on the child’s impairments, functional limitations, and participation restrictions.
Discuss the role of assistive and adaptive technology in the management of children with muscular dystrophy or SMA.
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The spectrum of neuromuscular diseases can affect any of the components of the motor unit, including the motor neuron, peripheral nerves, neuromuscular junction, and muscle. In these diseases, dysfunction of the motor unit results in loss of strength, range of motion, and functional abilities. In the past few decades, knowledge of the specific genetic causes of several neuromuscular diseases has greatly increased, which has enhanced the ability to correctly diagnose these patients and create informed prognoses. This information has opened the door to not only a better understanding of disease pathophysiology and presentation but also earlier diagnosis, new preventative approaches, targeted therapies, and improved personalized care. Physical therapy is an essential component of patient management, with the aim of preserving available functional abilities for as long as possible at each life stage, preventing complications, and maximizing quality of life within the context of disease progression.
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This chapter provides an overview of neuromuscular diseases in children, with a focus on Duchenne muscular dystrophy and spinal muscular atrophy (SMA). The clinical presentation of these diseases will be reviewed, along with medical management and selected physical therapy tests and measures across the spectrum of the International Classification of Functioning, Disability, and Health (ICF). Current evidence-based physical therapy management strategies will be discussed within the context of child development. Case studies will be presented to illustrate management across the life span, as well as a family-centered perspective.
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Classification and Key Features
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Muscular dystrophies are a diverse collection of inherited disorders that affect the muscle component of the motor unit and can be classified in several ways including age of onset, rate of progression, genotype, and other factors. Table 8-1 lists the most common muscular dystrophies in pediatrics, affecting children in infancy, childhood and/or adolescence.1
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