Central core disease

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Central core disease (pronunciation: /ˈsɛntrəl kɔːr diːˈziːz/) is a congenital myopathy that is characterized by the presence of centrally located cores in muscle fibers. It is a rare genetic disorder that primarily affects the skeletal muscles.

Etymology

The term "Central core disease" is derived from the characteristic appearance of affected muscle fibers. The term "core" refers to the central areas of reduced oxidative activity in muscle fibers, which are seen on histologic examination.

Symptoms

The symptoms of Central core disease can vary greatly from person to person. Some individuals may have mild symptoms, while others may have severe symptoms. Common symptoms include muscle weakness, hypotonia (reduced muscle tone), and developmental delay. Some individuals may also have scoliosis (a sideways curvature of the spine), hip dislocation, and susceptibility to malignant hyperthermia, a severe reaction to certain medications used during general anesthesia.

Causes

Central core disease is caused by mutations in the RYR1 gene. This gene provides instructions for making a protein that plays a key role in muscles used for movement (skeletal muscles). Mutations in the RYR1 gene disrupt the function of the protein, leading to the muscle abnormalities seen in Central core disease.

Diagnosis

The diagnosis of Central core disease is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. A muscle biopsy may also be performed, which shows the characteristic central cores in muscle fibers.

Treatment

There is currently no cure for Central core disease. Treatment is symptomatic and supportive, and may include physical therapy, respiratory support, and surgery for orthopedic complications such as scoliosis.

See also

External links

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