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Malignant Hyperthermia

How is it diagnosed?

The clinical diagnosis needs to be confirmed by laboratory testing of living muscle tissue, a muscle biopsy. If the test is positive the patient is provided with full information about MH and the family is offered screening based on the autosomal dominant pattern of inheritance, that is parents, siblings and children of the patient in the first instance. About forty per cent of families carry one of the 22 RYR1 diagnostic mutations associated with MH. Genetic testing using DNA from blood samples has recently become available as a preliminary screen for suitable familes but this will still need to be coordinated through a MH centre.

Patients known to be susceptible to MH or who have a family history of MH must inform any anaesthetist treating them about their condition in order to provide safe alternative anaesthesia. Advice can be obtained from the MH centre.

The condition does not affect the general health of the patient and previous uneventful general anaesthesia does not exclude MH.

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

Medical text written October 2000 by Dr J Halsall. Last updated May 2004 by Dr J Halsall, Honorary Research Fellow (Anaesthetics) and Associate Specialist in Anaesthesia, MH Investigation Unit, Clinical Sciences Building, St James's University Hospital, Leeds, UK.

 

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