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KMID : 1130620130090040280
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Journal of Clinical Neurology
2013 Volume.9 No. 4 p.280 ~ p.282
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A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
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Sim Jae-Eun
Hong Ji-Man
Suh Gyoung-Im
Cho Han-Na
Park Kyung-Seok
Sohn Eun-Hee
Choi Young-Chul
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Abstract
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Background: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway.
Case Report: A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T).
Conclusions: This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.
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KEYWORD
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GNE myopathy, GNE gene, sialic acid, pregnancy, hyposialylation
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