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Central core disease is an inherited neuromuscular disorder caused by a mutation in the RYR1 gene, resulting in muscle weakness. It is a congenital myopathy that affects the skeletal muscles used for movement, and symptoms can range from subtle impairments to severe muscle weakness. The disease is diagnosed through a muscle biopsy or genetic test, and there is no central treatment. Patients can manage their symptoms through close monitoring, physical therapy, and surgery. People with central core disease are at risk of malignant hyperthermia, a serious reaction to certain drugs used during surgical procedures.
Core disease attacks the skeletal muscles that are used for movement. As a result, people with this disease experience muscle weakness. The effects of this disease range from subtle movement impairments to severe muscle weakness. This inherited neuromuscular disease is caused by a mutation in the RYR1 gene. It is a rare disorder, although the exact incidence of people with the disease is unknown.
Nuclei, after which the disease is named, are disorganized areas in muscle fibers. These areas are only visible under a microscope. The gene responsible for the disorder is the RYR1 gene, which tells the body how to make the protein ryanodine receptor 1. The ryanodine receptors help the muscle fibers to contract, therefore allowing the body to move properly. A mutated RYR1 gene impairs the proper functioning of the ryanodine receptor and causes muscle weakness.
The most common inheritance pattern for central core disease is autosomal dominant, meaning that one altered gene in each cell can cause the disorder. A person with only one parent affected by the mutated gene can inherit the disease. Fewer people inherit the disease through an autosomal recessive pattern. This means that both copies of each cell have the mutated gene. An individual who has both parents with one copy of the mutated gene will inherit the disease in this way.
Doctors have classified the disease as a congenital myopathy. This means that it is a muscle disorder present at birth. In infants, it initially presents as a decrease in muscle tone, known as hypotonia, resulting in abnormal floppiness. The disorder can delay sitting, crawling, standing, and walking.
People suffering from this disease mostly experience mild muscle weakness affecting the core of the body, especially the legs and hips. It can also affect the facial muscles. People with core disease may develop curvature of the spine, dislocated hip, and joint deformities. The muscle weakness experienced by people with it does not tend to get worse over time.
A muscle biopsy or genetic test can be used to diagnose central core disease. Symptoms of the disease can be clearly visible after birth. There is no central treatment of the disease. Instead, patients can typically manage their symptoms through close monitoring by a doctor, physical therapy sessions, and surgery to correct the deformities.
Malignant hyperthermia can affect people with central core disease. It is a serious reaction to certain drugs, such as anesthetic gases, used during surgical procedures. This reaction causes muscle stiffness, high fever, acidosis, rapid heartbeat, and breakdown of muscle fibers. The condition can be life-threatening if not treated quickly.
