TPM3-related myopathy

TPM3-related myopathy is a disorder of the musculoskeletal system that can appear in different ways. It is caused by changes in the TPM3 gene, which is important for proper muscle function. People with this condition may experience various levels of muscle weakness and other muscle-related signs. The condition can show a range of symptoms from mild to more severe. It includes issues such as low muscle tone, muscle weakness, and other overlapping myopathies in both adults and children. The variability in muscle biopsy findings also highlights the range of how the condition can affect muscle tissue.

Common symptoms include muscle weakness, low muscle tone (hypotonia), delayed motor development, and distinct facial features due to muscle changes. Some individuals may have scoliosis (curving of the spine) and respiratory involvement, which means breathing may sometimes be affected.

TPM3-related myopathy is caused by pathogenic variants in the TPM3 gene, which plays an essential role in the function of skeletal muscles. These genetic changes disrupt the normal function of muscle fibers, leading to the symptoms and muscle abnormalities seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.