Central Core Disease (CCD) is a rare genetic disorder that affects skeletal muscles, primarily causing muscle weakness and potential complications in mobility. While the exact prevalence of CCD is not well-established, it is considered to be a relatively uncommon condition.
CCD is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children. The disorder is caused by mutations in the RYR1 gene, which plays a crucial role in muscle function.
Due to its rarity, the exact number of individuals affected by CCD is difficult to determine. However, it is estimated that CCD occurs in approximately 1 in every 50,000 to 100,000 individuals worldwide. It is important to note that these figures may vary across different populations and regions.
Diagnosis of CCD involves a combination of clinical evaluation, muscle biopsies, and genetic testing to identify the specific RYR1 gene mutations. While there is currently no cure for CCD, management focuses on symptom relief, physical therapy, and assistive devices to improve quality of life.
It is crucial for individuals suspected of having CCD to consult with healthcare professionals and genetic specialists for accurate diagnosis and appropriate management strategies.