Meet Valeria, Founder of Associazione Gli Equilibristi HIBM, a GNE Myopathy patient group in Italy.

After being diagnosed with GNE myopathy (GNEM), Valeria founded Associazione Gli Equilibristi HIBM in Italy because she and her twin sister decided there was not enough information available about GNEM. In addition to providing information, the association’s mission is to raise funds to promote and support GNEM research and form a network of people living with the disease. Valeria wants to help people cope with the fear of a rare disease diagnosis, as well as the sense of abandonment that comes from lack of research, resources, and support. Coming together as a community provides the necessary hope to those living with GNEM and many other rare diseases.

GNE Myopathy (GNEM)

What is it?

GNE myopathy is a rare muscle disease that affects both the upper and lower limbs.

What causes it?

In people with GNE myopathy, a gene mutation causes low levels of sialic acid, a substance that helps muscle proteins function properly. Without enough sialic acid, muscles progressively weaken and many people with GNE myopathy may eventually require a wheelchair.

What are some of the common symptoms?

  • Foot drop (difficulty lifting the front part of the foot)
  • Difficulty climbing stairs or running
  • Loss of strength and muscle function

How many people have it?

It is estimated that one in 1,000,000 people worldwide are living with GNE myopathy.

Common names for GNEM1

  • Distal myopathy with rimmed vacuoles (DMRV)
  • Distal myopathy, Nonaka type
  • Hereditary inclusion body myopathy
  • Nonaka myopathy
  • Quadriceps-sparing myopathy

1 GNE myopathy. Orphanet Website. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=602. Updated September 2018. Accessed March 29, 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact patientadvocacy@ultragenyx.com.