Abstract

GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function. This disease advances slowly, progressively paralyzing the person and eventually leading to complete immobilization.  The symptoms of GNE myopathy are very mild at first and may resemble a myriad of other diseases, and diagnosis is especially difficult due to slow onset of symptoms. Doctors also frequently misdiagnose this disease due to its rarity and mild initial symptoms. 

There is currently no cure for this debilitating disease. However, the University of Iowa has partnered with multiple institutions across the United States in order to conduct clinical trials on ManNAc. ManNAc is the first committed biological precursor of sialic acid, which may help slow down the progression of GNE myopathy.

This science comic was created in order to better communicate the intricacies of GNE myopathy to a wider audience. The fictional story follows a girl, Anne Ominous, who discovers that she has the disease. The comic tries to realistically depict the challenging journey that many GNE myopathy patients must endure and offers hope that the clinical trials of ManNAc will meet FDA approval and become available soon.

Keywords

GNE myopathy, inclusion body myositis 2, Nonaka myopathy, distal myopathy with rimmed vacuoles, hereditary inclusion body myopathies

How to Cite

Chen, T., (2025) “GNE Myopathy: Rare Muscle Weakness Disease”, Synthesis: A Digital Journal of Student Science Communication 6(1). doi: https://doi.org/10.17077/2643-8410.33881