With MDA’s support, scientists have made significant progress toward understanding and treating the inherited myopathies.
Not long ago, many people with myopathies that cause temporary symptoms were told they had psychological problems or were accused of being lazy. MDA-funded scientists helped show that these are treatable, physiologic medical conditions.
In the 1990s, researchers discovered that ion channel defects were at the root of several myopathies; that defective filament proteins give rise to nemaline myopathy; and that defects in or loss of a previously unknown protein called myotubularin cause X-linked myotubular myopathy.
The following decade, an MDA research grant to Rabi Tawil at the University of Rochester (N.Y.) helped lead to the identification of potassium channel abnormalities as the basis of Andersen-Tawil syndrome.
More recently, MDA-supported researchers have found that centronuclear myopathies encompass a larger group of diseases than just X-linked myotubular myopathy, and that these often have a better prognosis than the X-linked disease.
Today, MDA continues to support scientists in their quest to understand the molecular bases of the myopathies and to find effective treatments. This strategy has led to success in one myopathy, myotubular myopathy — we now have two exciting therapies in progress.