Tubular Aggregate Myopathy (TAM) is a rare inherited muscle disorder characterized by the presence of tubular aggregates within muscle fibers. It is typically identified through muscle biopsy examinations.
The term "tubular aggregate" refers to the accumulation of tiny, tube-shaped structures within the skeletal muscle cells. These aggregates are composed of abnormal structures formed from calcium stores and various proteins in the muscle fibers. The exact cause of the formation of tubular aggregates is still unknown, but genetic mutations have been identified in some cases.
Individuals affected by Tubular Aggregate Myopathy may experience various symptoms, including muscle weakness, fatigue, and stiffness. These symptoms may manifest differently among individuals, and the severity of the condition can range from mild to severe. In some cases, the disease may progressively worsen, leading to respiratory or swallowing difficulties.
Tubular Aggregate Myopathy is considered a genetic disorder, and it can be inherited through an autosomal dominant or autosomal recessive pattern. This means that affected individuals have a 50% chance of passing the condition to their children when the disorder is inherited dominantly, while the chance is higher when it is inherited recessively.
Currently, there is no known cure for Tubular Aggregate Myopathy, and treatment primarily focuses on managing symptoms and preventing complications. Physical and occupational therapy might be recommended to maintain muscle strength and function. Additionally, assistive devices or modifications to the environment may be required to enhance mobility and daily activities for individuals affected by the condition.
