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)

A note from our CEO to the GNE Myopathy CommunityGNE Myopathy is a rare muscle disease that affects both the upper and lower limbs. In people with this condition, a gene mutation causes low levels of sialic acid, a substance that helps muscle proteins function properly. As a result, muscles begin to weaken, resulting in loss of strength and muscle function.

People with GNE myopathy usually begin to exhibit symptoms in their twenties and thirties. Early symptoms typically include foot drop (difficulty lifting the front part of the foot) and other walking-related issues such as difficulty climbing stairs or running. As the disease progresses, it can spread to the upper legs, hips, arms, shoulders and hands. Over time, many people with GNE myopathy progressively lose muscle abilities and may eventually require a wheelchair.

GNEM is often mistaken for other conditions with similar symptoms, such as Limb-Girdle Muscular Dystrophy, Charcot-Marie-Tooth disease or Miyoshi myopathy.

Other names for GNE Myopathy:

  • Hereditary Inclusion Body Myopathy (HIBM)
  • Nonaka Myopathy
  • Distal Myopathy with Rimmed Vacuoles
  • Quadriceps Sparing Myopathy
  • Inclusion Body Myopathy Type 2 (IBM2)

*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.