Utforming av skåringsskjemaer til kvantifisering av nevrologiske utfall hos pasienter med CMT 1A

Abstract

We have performed a quantitative retrospective study to investigate the clinical manifestations of the hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease. Two different scoring instruments, “Neurological Sign Score” (NSS) and “Neurological Impairment Score” (NIS) have been applied to quantify the neurological signs documented on clinical exam of 240 patients affected by Charcot-Marie-Tooth type 1a. In the following we thoroughly explain the rationale for application of these scoring methods and other various forms used to collect other relevant data from the patients’ medical records. We furthermore discuss the different aspects of our approach and present critical comments based on our experience in using the forms. This presentation is solemnly a prologue to the final article in which we will present the statistic analysis on different variables associated with the disease. We aim at publishing the article in primo 2007.