[Suspected muscular disease: what to do?]

Abstract

During the last decades important progress in knowledge of hereditary neuromuscular problems could be achieved. Unfortunately, therapeutic management has not yet improved significantly, but diagnostic investigations have become less invasive for most disorders. For the clinician, the most important problem is still realizing that the complains of the patient could be a symptom of a neuromuscular problem. This should be followed by a careful history and clinical examination, to achieve a topical diagnosis (from motoneuron to muscle) and if ever possible already a clinical suspicion of the diagnosis. Investigations like neurophysiological technics, lab investigations, forearm ischemic exercise test or even muscular biopsy might be helpful to achieve this goal. Nowadays verification of the diagnosis is done in most cases by genetic DNA testing or by specific immunohistochemical staining or enzyme determination in muscular biopsy. This diagnostic way enhances the importance of history and clinical examination even in today's modern neurology.