Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.
Victoria LillbackMarco SavareseNiina SandholmPeter HackmanBjarne UddPublished in: European journal of neurology (2023)
Despite individual variability of severity, the overall disability due to walking difficulties and upper limb weakness remained moderate even at very advanced ages, and cardiomyopathy did not develop due to the titin defect alone. The acquired results promote the correct identification of TMD, and the obtained trajectories of disease evolution can be used as natural history data for any therapeutic intervention.