Are you a Carrier?

HIBM is an autosomal recessive disorder, which means that the parents of someone affected by HIBM are carriers of the disease. Carriers are not affected by the disease, which means that their bodies function normally. But when two carriers have a child, there is a 25% chance with each pregnancy of having a child who actually has HIBM, there is a 50% chance that each child will be a carrier like his or her parents (and not have the disease), and there is a 25% chance that each child of the couple will not carry any mutation for the disease (meaning that he or she will not be a carrier nor will he or she have the disease).
Approximately 1 in 15 Iranian Jews are carriers of HIBM and 1 in 1000 Iranian Jewish have the disease. If you are of Iranian Jewish descent, we urge you to get tested so that you can easily avoid passing the disease to your children. It is possible to test at any time, but is particularly important prior to becoming pregnant or during early pregnancy. 
Testing is anonymous and can be performed with a painless cheek swab.
Clinical Trials

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's HIBM Patient Day Symposium & Luncheon
Saturday August 29th, 2015 

Get up to date Information, with Physicians, scientists, advocates & other patients. 
Click here for more details and Registration
***Space is Limited***

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

Learn about a Phase 3 Clinical Research Study in GNE Myopathy (HIBM)

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About 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. 

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.

Officially called GNE Myopathy, commonly known as HIBM.
Nonaka Myopathy
DMRV – Distal Myopathy with Rimmed Vacuoles
QSM – Quadriceps Sparing Myopathy
HIBM2 – Hereditary Inclusion Body Myopathy Type 2
IBM2 – Inclusion Body Myopathy Type 2

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.