Central core disease (CCD) is an inherited (mostly dominant) neuro-muscular disorder characterised by central cores in type I fibres on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown because of variable expression and incomplete penetrance. Associated in approximately 25% of cases with malignant hyperthermia because of gene proximity or overlap: the mutation then involves gene RYR1 (19q13.1-13.2). In case of rare recessive transmission gene MYH7 (14q11.1) is involved. Multiminicore, minicore myopathy and core-rod myopathy are closely related to Central core disease and probably carry the same risk for malignant hyperthermia.
CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by – typically non-progressive – predominantly proximal muscle weakness, pronounced in the hip girdle.