A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.

Author: Jae Eun SIM ¹ ; Ji Man HONG ; Gyoung Im SUH ; Hanna CHO ; Kyung Seok PARK ; Eun Hee SOHN ; Young Chul CHOI
Author Information

1. Department of Neurology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
Publication Type:Case Report
Keywords: GNE myopathy; GNE gene; sialic acid; pregnancy; hyposialylation
MeSH: Adult; Distal Myopathies; Female; Humans; Lifting; Lower Extremity; Muscular Diseases*; N-Acetylneuraminic Acid; Phosphotransferases; Pregnancy*
From:Journal of Clinical Neurology 2013;9(4):280-282
CountryRepublic of Korea
Language:English
Abstract: 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.