TTN-related myopathy

TTN-related myopathy is a disorder of the musculoskeletal system caused by changes in the TTN gene. This gene normally instructs the body on making titin, a key protein found in muscle tissue. The condition can affect both children and adults, and its effects on muscles can vary. In some cases, the weakness does not get worse over time, while in others, the muscle weakness may progress gradually. People with this condition may experience weakness in the neck, trunk, and limb muscles, as well as joint contractures and breathing difficulties early in life. There can also be involvement of the heart, such as congenital heart anomalies or early-onset dilated cardiomyopathy. A muscle biopsy often reveals various structural changes that support the diagnosis of this condition.

The symptoms of TTN-related myopathy include weakness in the neck, axial muscles, and limbs. Some individuals may have joint contractures and early respiratory difficulties. Facial weakness and heart problems, such as congenital anomalies or dilated cardiomyopathy, can also be present. The severity of these symptoms can range from non-progressive to progressive over time.

This condition is caused by changes in the TTN gene, which encodes the titin protein. These changes disrupt the normal makeup of the titin protein, leading to problems in muscle structure and function. The genetic alterations associated with TTN-related myopathy can result in various types of muscle weakness seen from birth or developing later in life.

Information about treatment is currently limited for this condition.

The outlook for people with TTN-related myopathy can vary widely. Some individuals have stable, non-progressive weakness while others may experience a gradual worsening of symptoms. When respiratory or cardiac issues are present, careful monitoring becomes important. More detailed information about long-term outcomes is limited.

Information about research is currently limited for this condition.