Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 318, Issue 1-2, Pages 100-105Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2012.03.016
Keywords
GNE myopathy; Distal myopathy with rimmed vacuoles; Hereditary inclusion body myopathy; Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; (UDP-N-acetyl)-2-epimerase domain; N-acetylmannosamine kinase domain; Questionnaire Natural history
Categories
Funding
- Research on Intractable Diseases of Health and Labor Sciences Research Grants
- Comprehensive Research on Disability Health and Welfare Grants, Health and Labor Science Research Grants
- NCNP [23-4, 23-5]
- Translational Medical Center, NCNP
- Grants-in-Aid for Scientific Research [23591251] Funding Source: KAKEN
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Background: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, also called distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (HIBM), is a rare, progressive autosomal recessive disorder caused by mutations in the GNE gene. Here, we examined the relationship between genotype and clinical phenotype in participants with GNE myopathy. Methods: Participants with GNE myopathy were asked to complete a questionnaire regarding medical history and current symptoms. Results: A total of 71 participants with genetically confirmed GNE myopathy (27 males and 44 females: mean age, 43.1 +/- 13.0 (mean +/- SD) years) completed the questionnaire. Initial symptoms (e.g., foot drop and lower limb weakness) appeared at a mean age of 24.8 +/- 8.3 years. Among the 71 participants, 11 (15.5%) had the ability to walk, with a median time to loss of ambulation of 17.0 +/- 2.1 years after disease onset. Participants with a homozygous mutation (p.V572L) in the N-acetylmannosamine kinase domain (KD/KD participants) had an earlier disease onset compared to compound heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase and N-acetylmannosamine kinase domains (ED/KD participants: 26.3 +/- 7.3 vs. 21.2 +/- 11.1 years, respectively). KD/KD participants were more frequently non-ambulatory compared to ED/KD participants at the time of survey (80% vs. 50%). Data were verified using medical records available from 17 outpatient participants. Conclusions: Homozygous KD/KD participants exhibited a more severe phenotype compared to heterozygous ED/KD participants. (C) 2012 Elsevier B.V. All rights reserved.
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