Myotonic disorders and periodic paralysis.
The myotonias are a diverse set of diseases, variable in presentation, often difficult to diagnose and, until now, treated with only a limited degree of success. Recent genetic advances have pinpointed many of the mutations that underlie these disorders and have demonstrated that there may be different causative genetic mutations underlying the same phenotype. This chapter summarizes the genetic data currently available for these disorders and attempts to link these to their clinical features. In some instances this is conceptually relatively straightforward but in others, particularly DM, the manner in which the mutation leads to the observed phenotype is very unclear and can be used as a paradigm for some of the more puzzling aspects of modern human genetics. Some suggestions are put forward on how the unusual mutation seen in DM can lead to highly variable symptoms between individual patients, and how the mutation can be transmitted unstably through a pedigree.
Carey
N
N
Charing Cross and Westminster Medical School, London, UK.
Johnson
K J
KJ
D006801:Humans; D009154:Mutation; D009222:Myotonia / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D010243:Paralysis / Q000235:genetics* / Q000503:physiopathology; D010507:Periodicity