[The spectrum of hereditary skeletal-muscle channelopathies].
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.
Trip
J
J
Academisch Ziekenhuis Maastricht, Neuromusculair Centrum, afd. Neurologie, Postbus 5800, 6202 AZ Maastricht. j.trip@neurologie.azm.nl
Drost
G
G
Ginjaar
H B
HB
van Engelen
B G M
BG
Faber
C G
CG
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
D007473:Ion Channels