Overview

Central Core Disease (CCD), also known as central core myopathy, is an autosomal dominantly inherited muscle disorder present from birth that negatively affects the skeletal muscles.

Patients can have variable degrees of muscle weakness ranging from floppy infant syndrome, to delayed motor milestones, and generalised muscle hypotonia.

Pathological areas in muscle fibres are devoid of oxidative enzyme activity

The gene responsible has been shown to be the ryanodine receptor 1 on chromosome 19q13

Pathophysiology

Typical clinical features are hypotonia, muscle weakness and skeletal abnormalities

Impacts on anaesthesia

Risk of malignant hyperthermia

Expert opinion These patients are at risk for malignant hyperthermia, as mutations in the ryanodine receptor (RYR1) on chromosome 19q13.1, or linkage to its locus, have been detected [Sewry et al, 2002].

Expert opinion There are insufficient genotype-phenotype correlations, to make a definitive statement about the clinical risk, based on the mutation type alone, and caution persuades us to recommend a nontriggering anaesthetic unless the patient has had a normal IVCT [Klingler et al, 2009].