444 - Dental Treatment Considerations in Children with RYR1 Myopathies

Introduction:
Ryanodine Receptor 1 (RYR1) related myopathies are a group of congenital skeletal muscle diseases caused by a mutation in the ryanodine receptor calcium channel in the sarcoplasmic reticulum. RYR1 myopathies are the most common cause of congenital muscle weakness, inherited as autosomal dominant or recessive variations. These myopathies are rare, with an estimated prevalence of 1:90,000 in the US. Clinical findings include skeletal abnormalities and muscle weakness. RYR1 gene mutations are the most common risk factor for malignant hyperthermia.

Case Report:
This presentation discusses a 4-year old male patient with RYR1 myopathy presenting to Children's Wisconsin. Clinical and radiographic examinations revealed severe early childhood caries (ECC). Given extensive treatment needs and risk factors such as obesity and sleep apnea, dental rehabilitation under general anesthesia was planned. This report will include the challenges encountered while managing severe ECC in a medically complex patient with malignant hyperthermia susceptibility.