GNE Myopathy is a rare genetic (autosomal recessive) disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion body myopathy (HIBM), inclusion body myopathy type 2 (IBM2) or Nonaka myopathy. GNE myopathy results from mutations in a gene called GNE, which is responsible for a step in the production of a sugar called sialic acid.
Symptoms of the disease usually appear between 20 and 40 years of age and include foot drop and difficulty walking. The disease slowly affects other muscles of the arms and legs and patients typically start using a wheelchair one or two decades late.
ProDGNE (https://sites.fct.unl.pt/prodgne/home) is a research project aiming to develop innovative treatments for this disease and it has obtained Horizon 2020 co-funding under the EJPRD call on preclinical research. The project will unify European and Canadian efforts to develop an innovative therapeutic approach for GNE Myopathy.