Central Core Disease (CCD) is a rare genetic neuromuscular disorder characterized by muscle weakness and abnormalities in the central core of muscle fibers. It falls under the category of congenital myopathies, a group of diseases that affect skeletal muscles from birth or early childhood.
In CCD, muscle weakness typically presents in infancy or early childhood, affecting primarily the muscles involved in movement and posture. This can lead to delayed motor milestones, such as sitting, standing, or walking. The weakness may be more pronounced in the trunk and hip muscles, resulting in a waddling gait or difficulties with balance.
The defining characteristic of CCD is the presence of central cores within the muscle fibers. These cores are regions of abnormality that appear as lighter areas under a microscope, and they lack the usual arrangement of contractile proteins. The exact cause and mechanism of central core formation in CCD are not yet fully understood, but it is known to be attributable to mutations in the RYR1 gene.
In addition to muscle weakness and central core formation, individuals with CCD may experience other associated features like scoliosis (abnormal curvature of the spine), joint hypermobility, and respiratory difficulties. The severity and specific symptoms of CCD can vary widely among affected individuals, ranging from mild muscle weakness to severe disability.
While there is currently no cure for CCD, management often focuses on symptom relief and support. This may involve physical therapy to improve muscle strength and mobility, orthopedic interventions for scoliosis, and respiratory support if necessary. Genetic counseling and testing are recommended for individuals with CCD and their families to assess the risk of passing on the condition and to provide information for family planning.
