RYR1-related myopathy

RYR1-related myopathy is a condition that affects the muscles and is caused by changes in the RYR1 gene. This gene is responsible for creating a protein called the ryanodine receptor type 1, which helps control muscle function. A change in this gene can disrupt how muscles work, leading to a range of physical symptoms.

People with this condition may experience a variety of symptoms. Common features include symmetric weakness in the muscles close to the body’s center (proximal muscle weakness) and noticeable facial weakness, sometimes with drooping eyelids or difficulty moving the eyes. Other symptoms can include issues with swallowing and speaking (bulbar weakness), breathing difficulties, severe low muscle tone in newborns, and skeletal issues such as scoliosis or joint and foot deformities. Some individuals are also at risk for problems with temperature regulation during exercise or after anesthesia.

RYR1-related myopathy is caused by pathogenic variants in the RYR1 gene. These changes affect the production and function of the ryanodine receptor type 1 protein, which is important for muscle contraction. The disorder is genetic in nature, and the mutations can lead to the overlapping features seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.