Feasibility of DBS screening to identify adult patients with Pompe disease in a neuromuscular clinic population

Introduction In January 2012, a program was set up to rapidly screen patients with undiagnosed muscle disorders who were referred to a neuromuscular specialist in an adult hospital. A nurse was trained to do the DBS procedure as part of a series of required laboratory tests. All individuals referred to a neuromuscular specialist, either within the context of a neuromuscular clinic or an EMG laboratory, were considered. Patients with an elevated CPK, symptoms and signs indicative of a metabolic myopathy or limb girdle myopathy or muscular dystrophy, and without an obvious diagnosis (myotonic dystrophy, dermatomyositis, oculopharyngeal muscular dystrophy, FSH dystrophy) were tested on the initial visit. Those with positive DBS testing had samples sent to Duke University for genetic testing.