Abstract
Patients suffering from Charcot-Marie-Tooth disease complain about various so called positive and negative symptoms. Positive symptoms include e.g. paraesthesia, pain, fasciculations, muscle cramps and restless legs syndrome, whereby negative symptoms represent a loss of function, e.g. hypaesthesia or muscle weakness. There is growing knowledge about disease specific molecular pathomechanisms, which does not necessarily explain symptoms patients are complaining about. Currently there is no mechanism based treatment of any symptom. In this presentation I will give an overview about recent findings in Charcot-Marie-Tooth disease type 1A patients deciphering the mechanisms of motor symptoms, e.g. fasciculations, muscle cramps and regarding restless legs syndrome: leg movements and the urge to move. By combining axonal excitability studies with multi-unit electromyography recordings it is possible to decipher the role of changes in axonal excitability for the output of individual motor units and consequently also for motor symptoms. Our findings suggest that ion channel modulators may be beneficial to influence both positive and negative motor symptoms in CMT1A.
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