Neuromuscular Diseases of the Newborn

The peripheral nervous system (PNS) is composed of motor neurons, nerve roots, plexuses, peripheral nerves (motor, sensory and autonomic), neuromuscular junction, and skeletal muscles. Disorders of the PNS in neonates most frequently cause weakness, hypotonia, and contractures, which may be generalized or focal. Since these findings may also occur with brain and spinal cord lesions, key features of the history and neurologic exam, together with diagnostic testing, are helpful in reaching a diagnosis. This review covers the diagnostic approach to PNS disorders in the neonate and includes a discussion of representative diseases of the motor neuron, brachial plexus, peripheral nerves, neuromuscular junction, and muscles. The importance of reaching a precise genetic diagnosis is highlighted with a discussion of current and emerging treatments for neonatal PNS diseases, particularly spinal muscular atrophy.