Key result
Malignant hyperthermia exhibits genetic heterogeneity with autosomal dominant inheritance in ~50% of families alongside sporadic cases.
Why the study?
What are the genetic inheritance patterns of malignant hyperthermia?
What are the genetic inheritance patterns of malignant hyperthermia?
Malignant hyperthermia is a genetically heterogeneous disorder, most commonly exhibiting autosomal dominant inheritance but also presenting as sporadic or multifactorial cases.
Supports cautious family counseling reflecting inheritance heterogeneity; leaves open precise gene identification in sporadic cases.
Study of phenotype and familial distribution of malignant hyperthermia (MH) suggests heterogeneity with MH possibly being a symptom of several disorders. Review of all reported family studies supports the concept of heterogeneity with autosomal dominant inheritance in about one-half of the families. There is no strong evidence for other mendelian patterns of inheritance, but sporadic and possibly multifactorially determined cases are common. MH is also seen in other musculoskeletal disorders. We report 12 Wisconsin families with MH and outline a preliminary approach to the counseling of MH patients and their families.
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McPherson et al. (1982) conducted a review in Malignant hyperthermia. Genetic inheritance patterns was evaluated on Genetic inheritance patterns of malignant hyperthermia. Malignant hyperthermia exhibits genetic heterogeneity, with autosomal dominant inheritance in about one-half of families, while sporadic and multifactorial cases are also common.
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