TPM2-related myopathy

TPM2-related myopathy is a congenital muscle condition that affects the musculoskeletal system. It is caused by changes in the skeletal muscle beta-Tropomyosin gene, and it has a wide range of features. People with this condition can show muscle weakness, reduced muscle bulk (amyotrophy), low muscle tone (hypotonia), and distinctive facial features. In some cases, there may also be the presence of scoliosis and contractures. This condition can appear in different forms with overlapping symptoms, sometimes even in adults. Muscle biopsy studies in affected individuals have shown varied findings such as nemaline bodies, intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and even some dystrophic features. The variability in muscle biopsy results adds to the challenge of fully characterizing the condition.

Common signs in people with TPM2-related myopathy include muscle weakness, reduced muscle bulk, and hypotonia (low muscle tone). There may also be observable facial differences, as well as skeletal issues like scoliosis and occasional contractures. The presentation can vary widely from one person to another.

TPM2-related myopathy is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These genetic changes disrupt the normal function of muscle fibers, leading to the various muscle and skeletal symptoms observed 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.