title: [The spectrum of hereditary skeletal-muscle channelopathies].
abstract: Channelopathies are a heterogeneous group of genetic diseases in which a defective ion channel is responsible for the symptoms. They manifest as diseases of the heart, brain or skeletal muscle. Hereditary skeletal-muscle channelopathies are characterised by myotonia, periodic paralysis or a combination of both and can be categorised as chloride, sodium and calcium channelopathies. When there is myotonia, the skeletal-muscle membrane is overexcited. In cases of periodic paralysis, the skeletal-muscle membrane is inactive. It is difficult to classify hereditary muscle channelopathies on the basis of clinical criteria only. A more reliable diagnosis is made using DNA analysis. Scientific research should focus on genotype-phenotype relationships.
authors.affiliation: Academisch Ziekenhuis Maastricht, Neuromusculair Centrum, afd. Neurologie, Postbus 5800, 6202 AZ Maastricht. j.trip@neurologie.azm.nl
authors.forename: J
authors.initials: J
authors.lastname: Trip
authors.forename: G
authors.initials: G
authors.lastname: Drost
authors.forename: H B
authors.initials: HB
authors.lastname: Ginjaar
authors.forename: B G M
authors.initials: BG
authors.lastname: van Engelen
authors.forename: C G
authors.initials: CG
authors.lastname: Faber
mesh_terms: D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology*; D009140:Musculoskeletal Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D007473:Ion Channels