Diagnosing Neuromuscular Disorders: Are We Doing Better Than Before?

Abstract

Diagnosing a neuromuscular disorder is a multi-step process and often involves several tests. When considering the differential diagnosis, often the patient’s clinical symptoms and signs, and family history, give an important clue. The most important diagnostic tests include biochemical testing, nerve conduction study and electromyography, muscle imaging, muscle biopsy, and molecular genetic study. How each of these diagnostic modalities helps in the confirmation of both rare and more common neuromuscular disorders will be illustrated through the following examples: collagen VI-related congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome, Duchenne muscular dystrophy, and spinal muscular atrophy. How a confirmed diagnosis helps the management of our patients with these different neuromuscular conditions will also be highlighted.