Central Core Disease
A congenital myopathy characterized by central cores in muscle fibers that lack mitochondria and oxidative enzyme activity.
Full Definition
Central core disease is a rare congenital myopathy caused by mutations in the ryanodine receptor gene (RYR1). The condition is characterized by the presence of central cores within muscle fibers, which appear as areas devoid of mitochondria and oxidative enzyme activity on specialized histochemical stains. These cores typically extend along the length of the muscle fiber and are best visualized with NADH-TR or SDH staining. Patients typically present with proximal muscle weakness, delayed motor milestones, and increased susceptibility to malignant hyperthermia. The disease follows an autosomal dominant inheritance pattern with variable expression.
Usage
Usage note: Hyphenate all components of the compound term.
In Context
- "Central core disease was confirmed by the presence of characteristic cores on NADH staining." — Muscle biopsy diagnosis
- "The patient's family history was significant for central core disease." — Clinical case report