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Annotated abstract

74 An approach to GNE myopathy: a tale of two sisters presenting with bilateral foot drop

jnnp · 2025-11-26 · canonical JSON source

9 visible annotations · policy: published · automated confidence ≥ 75.00%

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GNE myopathy is an autosomal recessive distal myopathy caused by a mutation in the GNE gene which encodes the rate limiting enzyme in sialic acid biosynthesis. It is a rare condition affecting about 1 in 1 million people and is more common in people of Japanese and Middle Eastern descent. GNE myopathy presents in adolescence to early adulthood, typically with bilateral foot drop due to anterior tibialis weakness and progresses over decades to involve skeletal muscles throughout the body, characteristically sparring the quadriceps.We report cases of 2 sisters of Southeast Asian ancestry, presenting with difficulty in walking and bilateral foot drop at the age 17 and 26 respectively. Initially investigated for more common hereditary and acquired causes of distal muscle weakness, they were eventually diagnosed with distal myopathy based on symptom progression, MRI, neurophysiology, and muscle biopsy. Subsequently, genetic testing in 2024 confirmed GNE Myopathy.Whilst GNE myopathy is currently an untreatable condition, there are several avenues for promising treatment in preclinical and clinical studies from substrate substitution to gene therapy options. Therefore, the increasing recognition and awareness of this myopathy is of clinical importance.rebecca.johnson131@nhs.net