Are you a Carrier?
National Human Genome Research Institute (NHGRI) has completed Phase 1 of its clinical trial of ManNac.
National Human Genome Research Institute (NHGRI) is recruiting patients for a Natural History Study of patients with HIBM. MORE INFO
Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease. MORE INFO
NDF Appoints new Lale Welsh as new Executive Director - PRESS RELEASE
NDF proud sponsor of "Rare Disease Day Symposium" - See Videos
Results from Ultragenyx Pharmaceutical’s Phase 1 study of UX001. MORE INFO
AWARENESS. SCREENING. CURE.
WHAT IS HIBM?
HIBM is a rare genetic disease that causes muscles to slowly waste away. HIBM is not life-threatening but it may lead to physical debilitation within two decades of diagnosis. Symptoms usually begin to develop in early adulthood, between late teens to early 30’s. HIBM is most common in the Iranian Jewish and Japanese communities, but affects individuals of all ethnicities.
WHAT CAUSES HIBM?
HIBM is caused by a mutation in a single gene called GNE. GNE encodes the enzyme responsible for producing sialic acid, an important component of muscle function. The body’s failure to produce enough sialic acid causes muscles to slowly weaken.
OTHER NAMES FOR HIBM
Officially called GNE Myopathy, commonly known as HIBM.
ALSO KNOWN AS:
DMRV – Distal Myopathy with Rimmed Vacuoles
QSM – Quadriceps Sparing Myopathy
HIBM2 – Hereditary Inclusion Body Myopathy Type 2
IBM2 – Inclusion Body Myopathy Type 2
WHAT ARE THE SYMPTOMS OF HIBM?
Early signs and symptoms include foot drop, difficulty running or walking, frequent loss of balance, tripping, and weakness in the index finger. As time progresses, weakness may involve the hand, shoulder and neck muscles. In most cases, muscles used in the face, the eyes, for breathing, for digestion, and for the heart are completely unaffected. Organs remain intact and unaffected.