Mark Tarnopolsky, MD, discusses why functional measures, such as standing from a chair and climbing stairs, may provide a more meaningful picture of how Pompe disease affects daily life than traditional muscle strength testing alone.
Transcript
From a monitoring perspective, unfortunately, many clinics rely on what’s called the MRC grade, where you just check someone’s strength. The problem is that’s not very functional.
Most patients complain of can’t get out of a chair, can’t go up a flight of stairs. And if we think even about aging, those are the biggest determinants of someone’s disability and the need for assistive devices and for personal support workers.
And those are not well captured. So we are definitely advocating for — in our clinic, we test what’s called a Five Times Sit to Stand and going up a flight of stairs. Easy to implement in a clinic, and those functional tasks are rarely captured by most clinics.
