Neuromuscular Diseases

Abstract

This chapter addresses neuromuscular disorders of the brain/upper motor neuron (cerebral palsy) and spinal cord/lower motor neuron (myelomeningocele, spinal muscular atrophy, spinal cord injury, and poliomyelitis). It then addresses Charcot-Marie-Tooth disease, an example of a disorder affecting the peripheral nerves. Muscular diseases are then discussed, such as Duchenne muscular dystrophy, myotonic disorders, and dermatomyositis. The chapter concludes with Friedrich ataxia and complex regional pain syndrome type 1. Imaging modalities and issues for each condition are considered by anatomic region, with focus on the manifestations and sequelae of common pathophysiologic processes. Neuromuscular diseases encompass a large group of conditions affecting muscles and the nerves that control them; they can occur in utero or develop at any time from infancy through adulthood. Localizing the lesion to the brain/upper motor nerve, spinal cord/motor nerve, peripheral nerve, and muscle is essential to narrow the differential diagnosis. The type of weakness and the presence of increased muscle tone or bulk, Babinski sign, hypotonia, and delayed motor skills help determine whether the disorder is peripheral or centrally mediated. In either case, respiratory and cardiac complications, along with

Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases

“…Neuromuscular diseases include a large number of different medical conditions that affect the peripheral nervous system and muscle [ 1 , 2 ]. Many of them are incurable genetic diseases [ 3 , 4 ].…”