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                                                   What Is GNE Myopathy?

Do you see patients with foot drop? Weakness in the pincer grip? If so, they may have GNE Myopathy. 

GNE Myopathy (GNEM) is a severe muscle disease that affects adults.

A deficiency of an enzyme (GNE/MNK) causes GNE Myopathy. In people with this deficiency, their bodies cannot complete the first step of sialic acid biosynthesis needed for the modification of proteins and fats. 

The first symptom of GNEM is often foot drop, which is when lifting the front part of the foot becomes difficult, so the front of the foot is dragged on the ground when walking. As additional muscles become affected by GNE Myopathy this leads to difficulties climbing stairs or getting up from a sitting position, and weakness of the hands and shoulder muscles. People with GNEM typically start to show muscle weaknesses around 20 to 30 years of age. Over the following 10 to 20 years, many people with GNEM progressively lose muscle abilities and may eventually require a wheelchair.  

GNE Myopathy is also known as Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV) or Nonaka Myopathy.

To check what disease they may have, you can use ALDA Online Diagnostic Tool. 



Ultragenyx is sponsoring several studies aceneuramic acid extended release, an investigational product, in GNE Myopathy.

A Phase 3 clinical study is enrolling patients and a Phase 2 clinical study is ongoing. For additional information on the Phase 3 study, please see the study brochure.

All patients are invited to participate in a registry and natural history study, called the GNEM Disease Monitoring Program (GNEM-DMP). The online registry collects information from GNE myopathy patients worldwide to track the progression of the disease at several points (at registration, six months, 12 months and yearly up to 15 years). Participating in this study will help physicians understand more about how GNE myopathy affects the body and quality of life over time. It will also help researchers develop potential treatments. 

For more information and to join the registry, visit The study is also listed at