TPM2-related myopathy

A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.

Also known as: TPM2 myopathy, TPM2-related myopathy, autosomal dominant TPM2-related myopathy, congenital myopathy related to TPM2

7 clinical trials for this condition and its sub-types, 1 tagged with TPM2-related myopathy itself.