Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.
This article is dedicated to our teacher, Prof. Erich Kuhn, Heidelberg, on the occasion of his 88th birthday on 23rd November 2008. In contrast to muscular dystrophies, the muscle channelopathies, a group of diseases characterised by impaired muscle excitation or excitation-contraction coupling, can fairly well be treated with a whole series of pharmacological drugs. However, for a proper treatment proper diagnostics are essential. This article lists state-of-the-art diagnostics and therapies for the two types of myotonic dystrophies, for recessive and dominant myotonia congenita, for the sodium channel myotonias, for the primary dyskalemic periodic paralyses, for central core disease and for malignant hyperthermia susceptibility in detail. In addition, for each disorder a short summary of aetiology, symptomatology, and pathogenesis is provided.
Lehmann-Horn
F
F
Institute of Applied Physiology, Ulm University, Ulm, Germany. frank.lehmann-horn@uni-ulm.de
Jurkat-Rott
K
K
Rüdel
R
R
D018118:Chloride Channels / Q000502:physiology; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D020512:Myopathy, Central Core / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D009222:Myotonia / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D020513:Paralysis, Hyperkalemic Periodic / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D015222:Sodium Channels / Q000502:physiology
D018118:Chloride Channels; D015222:Sodium Channels