Central core disease of muscle

From WikiMD's Wellness Encyclopedia

Central Core Disease of Muscle

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]

External links[edit | edit source]


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