Imagine you are a strong, healthy young adult with a lifetime of promise ahead of you. One day, you notice that you are having trouble bending your index finger. Or you realize you can't hold your foot up the way you used to. Or people start asking you why you're limping. You have no idea what's happening to your body, nor does anyone else. You are scared and confused and realize that you are helpless to stop the slow and terrifying transformation taking place in your body. That is what HIBM feels like. And that's just the beginning.
AWARENESS. SCREENING. CURE.
HIBM (also known as GNE Myopathy) is a rare and debilitating form of muscular dystrophy that causes muscles to waste away and robs people of their ability to do all of the everyday activities that the rest of us take for granted. While the recessive form of the disease is most common among Jews, Persians and the Japanese community, HIBM affects people around the world. There is currently no treatment or cure.
A public-private partnership has launched an HIBM natural history study and patient registry.
National Human Genome Research Institute (NHGRI) is recruiting patients for a Natural History Study of patients with HIBM.
Ultragenyx Phase 2 Sialic Acid Study Results Presented at American Academy of Neurology on April 30, 2014