Which are the symptoms of Central Core Disease?

Central Core Disease (CCD) is a rare genetic disorder that primarily affects the skeletal muscles. It is classified as a congenital myopathy, meaning it is present at birth and characterized by muscle weakness and potential complications in muscle function. CCD is caused by mutations in the RYR1 gene, which is responsible for producing a protein involved in muscle contraction.

The symptoms of Central Core Disease can vary in severity and may present differently among affected individuals. However, there are several key signs that are commonly associated with this condition:

1. Muscle weakness: One of the primary symptoms of CCD is generalized muscle weakness, which can affect various muscle groups throughout the body. This weakness may be more pronounced in the proximal muscles (those closer to the center of the body) and can lead to difficulties with activities such as walking, climbing stairs, or lifting objects.



2. Hypotonia: Hypotonia, or low muscle tone, is another characteristic feature of CCD. It refers to reduced muscle stiffness and can result in floppiness or poor muscle control. Infants with CCD may exhibit hypotonia, leading to delays in achieving motor milestones such as sitting, crawling, or walking.



3. Delayed motor development: Due to muscle weakness and hypotonia, individuals with CCD may experience delays in motor development. This can manifest as a delay in sitting up, standing, walking, or other motor milestones typically achieved during infancy and childhood.



4. Skeletal abnormalities: Some individuals with CCD may have skeletal abnormalities, such as scoliosis (curvature of the spine) or hip dislocation. These skeletal issues can further contribute to difficulties with mobility and posture.



5. Respiratory complications: In severe cases of CCD, respiratory muscles may be affected, leading to respiratory difficulties. This can result in breathing problems, especially during sleep or periods of physical exertion.



6. Exercise intolerance: Many individuals with CCD experience exercise intolerance, meaning they have difficulty sustaining physical activity or may tire easily. This can be due to the underlying muscle weakness and compromised muscle function.



7. Other possible symptoms: While less common, some individuals with CCD may also exhibit additional symptoms such as joint hypermobility, mild cognitive impairment, or susceptibility to malignant hyperthermia (a potentially life-threatening reaction to certain medications used during anesthesia).

It is important to note that the severity and specific symptoms of CCD can vary widely among affected individuals. Some individuals may have mild forms of the disease with minimal impact on daily functioning, while others may experience more significant muscle weakness and complications. Proper diagnosis and management by healthcare professionals specializing in neuromuscular disorders are crucial for individuals with CCD.