Management of pregnancy complicated by central core disease

Central core disease (CCD) is one of the congenital myopathies and common clinical symptoms include muscle atrophy, lower limb skeletal weakness, floppy infant syndrome, and skeletal deformities such as hip displacement and scoliosis.1,2 It is a rare disorder that exhibits autosomal dominant and recessive mode of inheritance, caused by the mutation of the ryanodine receptor (RYR1) gene.1 The RYR1 gene mutation is also responsible for malignant hyperthermia induced by general anesthesia.3,4
Source: International Journal of Obstetric Anesthesia - Category: Anesthesiology Authors: Tags: Correspondence Source Type: research