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 |