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 one in 20 Iranian Jews are carriers of HIBM and one in 400 Persian Jewish couples are at risk of having a child with 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) is recruiting patients for 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.


Results from Ultragenyx Pharmaceutical’s Phase 1 study of UX001.


NDF Executive Director Carolyn Yashari Becher appointed to HIBM Steering Committee as part of HIBM Patient Monitoring Program to facilitate integration of patient registry and natural history information.

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About HIBM

Hereditary Inclusion Body Myopathy (HIBM) is a rare genetic disease that impacts people from all over the world. Although concentrations of HIBM are found among the Japanese and Iranian Jewish communities, HIBM affects individuals of diverse ethnic backgrounds, including those of Indian, Dutch, Latino, Japanese, Korean, Chinese, Caucasian and Israeli descent, as well as those of mixed heritage.

HIBM is also known as GNE Myopathy, Inclusion Body Myopathy Type 2 (IBM2), Distal Myopathy with Rimmed Vacuoles (DMRV), Quadriceps Sparing Myopathy (QSM) and Nonaka Myopathy. It is caused by mutations in the GNE gene. GNE encodes the enzyme responsible for making sialic acid, and HIBM patients have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. The body’s failure to produce enough sialic acid causes muscles to slowly waste away and can lead to very severe disability within 10 to 20 years of diagnosis, and many patients are confined to wheelchairs within that time.  

Some early signs of HIBM are difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Most patients first show symptoms in the their 20s or 30s—the prime of their lives. In addition, symptoms can be different in different people. For example, some people are still walking without assistance years after diagnosis, and others are not. 

Luckily, we do not believe that the brain or internal organs are affected by HIBM. In addition, patients’ quadriceps are relatively unaffected.