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. 2021 Jul 9;12(4):577–592. doi: 10.1007/s12687-021-00536-1

Table 3.

Characteristics of alternative examples of genetic results

Malignant hyperthermia Restless legs syndrome (RLS)/Willis-Ekbom disease
Genetic mutation

Autosomal, dominant mutation

RyR1 or CACNA1S

Polygenic disorder. Various variants contribute to the phenotype
Risk (of developing the disease due to the mutation) High risk (50%) Slightly increased risk
Prevention possibilities Usage of alternative anesthetic agents or muscle relaxants No preventive measures
Treatment possibilities If recognized promptly, treatable. Otherwise possibly lethal Lifestyle change and medication can alleviate symptoms
Disease onset Anytime From childhood to over 90 years
Cure No cure No cure
Severity of the disease Potentially lethal Non-lethal