Central core disease of muscle

Central Core Disease of Muscle

File:Muscle tissue.png

Illustration of muscle tissue, the primary site affected by Central Core Disease

Central Core Disease of Muscle (CCD) is a congenital myopathy characterized by the presence of distinctive structural abnormalities in muscle fibers. It is a rare genetic disorder that primarily affects the skeletal muscles, which are used for movement.

Etiology

CCD is caused by mutations in the RYR1 gene. This gene provides instructions for making a protein that plays a key role in a process called excitation-contraction coupling, which is necessary for muscles to contract.

Symptoms

Symptoms of CCD typically begin in infancy or early childhood and can include muscle weakness, delays in motor skills, difficulty with physical coordination, and susceptibility to malignant hyperthermia, a severe reaction to certain drugs used during general anesthesia.

Diagnosis

Diagnosis of CCD is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as a muscle biopsy, which can reveal the characteristic "central cores" in muscle fibers that give the disorder its name.

Treatment

There is currently no cure for CCD. Treatment is symptomatic and supportive, and may include physical therapy, respiratory support, and avoidance of certain anesthetic agents.

Prognosis

The prognosis for individuals with CCD varies. Some individuals may have a normal life expectancy, while others may experience severe complications such as respiratory failure.

See also

• Muscular Dystrophy
• Congenital Myopathies
• RYR1-related congenital myopathy

External links

• National Organization for Rare Disorders (NORD)
• Muscular Dystrophy Association

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