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Neurol India. 2019 Sep-Oct;67(5):1213-1219. doi: 10.4103/0028-3886.271259.

The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care.

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School of Life Sciences, Jawaharlal Nehru University, New Delhi, India.
School of Biotechnology, Jawaharlal Nehru University, New Delhi, India.
School of Life Sciences; World without GNE Myopathy, Jawaharlal Nehru University, New Delhi, India.
World without GNE Myopathy, Jawaharlal Nehru University; School of Environmental Sciences, Jawaharlal Nehru University, New Delhi, India.


Inherited neuromuscular diseases are a heterogeneous group of rare diseases for which the low general awareness leads to frequent misdiagnosis. Advances in DNA sequencing technologies are changing this situation, and it is apparent that these diseases are not as rare as previously thought. Knowledge of the pathogenic variants in patients is helping in research efforts to develop new therapies. Here we present a review of current knowledge in GNE myopathy, a rare neuromuscular disorder caused by mutations in the GNE gene that catalyzes the biosynthesis of sialic acid. The most common initial symptom is foot drop caused by anterior tibialis muscle weakness. There is a progressive wasting of distal skeletal muscles in the lower and upper extremities as well. The quadriceps is relatively spared, which is a distinguishing feature of this disease. The characteristic histological features include autophagic rimmed vacuoles with inclusion bodies. GNE variant analysis of Indian patients has revealed a founder mutation (p.Val727Met) common within the normal Indian populations, especially in the state of Gujurat. We discuss therapeutic options, including metabolite supplementation, pharmacological chaperones, and gene therapy. Initiatives that bring together patients, researchers, and physicians are necessary to improve knowledge and treatment for these rare disorders.


GNE myopathy; gene therapy; genetic disorders; inherited neuromuscular disorders; rare diseases

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