J Clin Neurol.  2013 Oct;9(4):280-282. 10.3988/jcn.2013.9.4.280.

A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

• Sim JE
• Hong JM
• Suh GI
• Cho H
• Park KS
• Sohn EH
• Choi YC

• KMID: 1980549
• DOI: http://doi.org/10.3988/jcn.2013.9.4.280

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.

Keyword

GNE myopathy; GNE gene; sialic acid; pregnancy; hyposialylation

MeSH Terms

Adult
Distal Myopathies
Female
Humans
Lifting
Lower Extremity
Muscular Diseases*
N-Acetylneuraminic Acid
Phosphotransferases
Pregnancy*
N-Acetylneuraminic Acid
Phosphotransferases

Figure

• 

  Fig. 1 Images from a computed tomography scan of the patient's leg muscles. We observed severe fatty infiltration (white arrow) of the gastrocnemius, soleus, and tibialis anterior muscles (B) compared to the quadriceps muscles (A), which were unaffected.

• 

  Fig. 2 Mutation analysis of GNE (black arrowheads): (A) c.86T>C in exon 2 (M29T) and (B) c.622G>A in exon 4 (D208N).

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