British Journal of Anaesthesia, 2001, Vol. 86, No. 2 166-168
© 2001 The Board of Management and Trustees of the British Journal of Anaesthesia
Editorial |
Editorial III
A breakthrough in the genetic diagnosis of malignant hyperthermia
The goal of a simple non-invasive DNA test for susceptibility to malignant hyperthermia (MH) has remained elusive. Given the complexity of the disorder at the genetic level, inherent with a genetically heterogeneous1 condition, the initial aim has been to introduce limited DNA testing for some families. This issue contains the first comprehensive description of the circumstances in which limited DNA testing may be introduced.2 This is in the form of guidelines produced by the European Malignant Hyperthermia Group (EMHG). It is, however, important to appreciate that these guidelines represent a consensus statement and not a validated process. In this editorial we examine the evidence underpinning the guidelines and the steps required for them to be validated.
For the last 30 yr the invasive in vitro muscle contracture test (IVCT) has been the only recognized diagnostic tool to assess MH status. A standardized European protocol was published in
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