The genetics of malignant hyperthermia.

AUTOR(ES)

Ball, S P

RESUMO

Malignant hyperthermia susceptibility remains the commonest cause of death owing to general anaesthesia. This is despite the availability of presymptomatic testing, admittedly by a highly invasive method, and a recognised treatment for implementation immediately a patient shows signs of developing a crisis. Recently the finding of linkage to markers from chromosome 19q13.1-13.2 and the identification of mutations in a candidate gene held out hope of genetic diagnosis being available. However, it is likely that only about 50% of families have a mutation of the skeletal muscle calcium release channel gene. With this degree of genetic heterogeneity, presymptomatic testing based on DNA markers can only be offered at present to a limited number of families where linkage to markers from 19q13.1-13.2 has been clearly shown.

Documentos Relacionados

• High skeletal muscle adenylate cyclase in malignant hyperthermia.
• A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.
• Reduced inhibitory effect of Mg2+ on ryanodine receptor-Ca2+ release channels in malignant hyperthermia.
• Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia.
• Treatment of perennial allergic rhinitis by local hyperthermia.