Diagnosis of neuromuscular diseases using a novel questionnaire and data mining applications. Science or fiction?

Introduction: The diagnosis of neuromuscular diseases is challenging. Especially rare diseases such as Pompe disease are frequently diagnosed with delay or are even misdiagnosed. We therefore developed a questionnaire based and data mining supported tool for diagnosing selected neuromuscular diseases (e.g. muscular dystrophy, storage diseases, amyotrophic lateral sclerosis (ALS)) to facilitate the diagnosis and conducted a monocentric pilot study. Material and methods: First, interviews with patients were conducted focussing on their pre-diagnostic experiences. Likewise the patients' view and expertise was colle…