Survey on the Diagnostic Process of Amyotrophic Lateral Sclerosis

OBJECTIVE: To emphasize the need for precise diagnosis of amyotrophic lateral sclerosis (ALS), a progressive and degenerative disease of upper and lower motor neurons that often present initially with weakness at the upper or lower extremities, and frequently misdiagnosed as myelopathy, radiculopathy, peripheral neuropathy or arthropathy that may ultimately lead to unnecessary treatments including surgical procedures. METHOD: We retrospectively reviewed medical records of 331 ALS patients who visited our hospital between 1998 and 2008. Symptoms at onset, progression of disease, radiologic findings, surgeries prior to diagnosis of ALS, outcome after surgery or conservative treatments, and electrodiagnostic study results were reviewed. RESULTS: Among the 331 patients with ALS, 34 (10.3%) had a history of surgical procedure and 37 (11.1%) underwent conservative treatment prior to diagnosis of ALS. 34 patients with a mean disease duration at diagnosis of 20.0+/-14.9 months, had surgery for symptoms that were later attributable to ALS. In 30 of the 34 patients, symptoms did not resolve after the intervention. 37 patients with a mean disease duration at diagnosis of 16.6+/-14.3 months, underwent conservative treatments such as physical therapy prior to diagnosis of ALS. Only in one patient (2.7%), symptoms improved after conservative treatment. CONCLUSION: In the absence of a single confirmatory study for the diagnosis of ALS, clinical findings may be misinterpreted, leading to an erroneous diagnosis. Therefore, closer and more careful follow-up is necessary for patients with limb weakness in the absence of sensory symptoms, or bulbar abnormalities such as dysarthria and dysphagia.

A Research on the Management of Ventilatory Insufficiency in Patients with Neuromuscular Diseases

OBJECTIVE: To investigate the real condition of pulmonary rehabilitation for patients with advanced neuromuscular diseases (NMDs) on mechanical ventilation in Korea. METHOD: In order to estimate current state of pulmonary rehabilitative management, chart review and pulmonary function evaluation were conducted in a total of 267 NMD patients who had applied mechanical home ventilator in our center from March 2001 to December 2008. RESULTS: Total 267 patients were included: 95 with Duchenne muscular dystrophy, 69 with other types of myopathy, 83 with amyotrophic lateral sclerosis (ALS), 20 with spinal muscular atrophy. Among them, 18 who were previously intubated and 17 patients who had undergone tracheostomy were switched into volume-limited non-invasive ventilation (NIV). At the time of hospital discharge, 234 patients were applied NIV successfully. Twenty other patients who once used continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) ventilators inappropriately were switched into volume-limited NIV. However, 20 patients who had successfully applied NIV first underwent tracheostomy due to exacerbation of underlying disease. CONCLUSION: Adequate pulmonary management is the only promising method to prevent lethal complications, and to prolong life span of advanced NMD patients. We assume that more NMD patients can improve their quality of life and prolong their life through proper pulmonary rehabilitation including regular pulmonary function check-ups and ventilatory state monitoring as well as early NIV application.