Motor Neuron Diseases

Motor neuron diseases are a rare group of inherited or acquired disorders characterized primarily by motor neuron loss, in many cases severe and life-limiting. The major disorders in this group include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Kennedy disease, and poliomyelitis. Diagnosing most motor neuron diseases is done by combining clinical findings with genetic and electrodiagnostic testing, with serology and imaging playing a smaller role. Treatment is generally supportive, focusing on rehabilitation and equipment needs, exercise, dysphagia, spasticity, sialorrhea, nutrition, and respiratory management and communication augmentation. The landscape of motor neuron disease is rapidly changing, with the eradication of poliomyelitis, the identification of many genetic causes of ALS, and new disease-modifying and life-changing treatments for ALS and SMA.