Stay Connected What is GNE myopathy (also known as HIBM or DMRV)? GNE myopathy is also known as hereditary inclusion body myopathy (HIBM), distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. GNE myopathy is a severe, adult-onset muscle disease caused by a deficiency of an enzyme in the first step of sialic acid biosynthesis needed for the modification of proteins and fats. Patients with GNE myopathy/HIBM typically show progressive muscle weaknesses around 20 to 30 years of age. Over the ensuing 10 to 20 years, many patients progressively lose significant functional ability and become wheelchair-bound. There are no current treatments for this disease.
TREAT-NMD TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network's focus has been on the development of tools that industry, clinicians and scientists needs to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide.
ARM Advancement of Research for Myopathy is a 501(c)(3) non-profit organization with the primary goal of speeding up bio-medical research on IBM2, the Autosomal Recessive form of Hereditary Inclusion Body Myopathy (HIBM).
NDF Neuromuscular Disease Foundation is a non-profit organization whose goal is to find a cure of neuromuscular diseases, including Hereditary Inclusion Body Myopathy (or HIBM).
SHORE The Sephardic Health Organization for Referral and Education is comprised of organizations sharing the common goal of combatting Sephardic Jewish genetic diseases.
PADM Patients Association for Distal Myopathies is a patient support organization based in Japan that help organized a meeting during the WMS 2010 in Kumamoto and has continued to petition for the development programs in support of myopathy diseases.