Last updated: Friday, 06, August, 2010
|Key Information||Appropriate Tests|
Muscle biopsy. Screening with creatine kinase(CK) is possible in some families but false negatives may occur.
The definitive test is the caffeine-halothane contracture test, which is performed in only a few specialised centres.
Inherited as an autosomal dominant (50% of cases) or autosomal recessive (20%), but affects males more frequently than females.
History of an uneventful anaesthetic does not exclude a subsequent attack.
The syndrome occurs in association with a number of specific genetic myopathies, but most cases are due to an undefined genetic cause.
A few of these are due to mutations in the ryanodine receptor.
Electrolytes (potassium), creatine kinase (CK), urea, creatinine; myoglobin - urine; blood gases.
See also DIC.