Pattern analysis of lower limb magnetic resonance images in Korean patients with distal myopathy
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Background: Magnetic resonance (MR) images are useful for diagnosing myopathy. The purpose of this study was to determine the usefulness of lower-limb MR images in Korean patients with distal myopathy. Methods: We reviewed medical records in the myopathy database from January 2002 to October 2016. We selected 21 patients from 91 unrelated families with distal myopathy: four with GNE myopathy, 11 with dysferlinopathy, and six with ADSSL1 myopathy. Results: Ten (48%) of the 21 patients were men. The ages of the participants at symptom onset and imaging were 19.2 ± 9.5 and 30.4 ± 9.0 years (mean ± standard deviation), respectively. Their grade on the modified Gardner-Medwin and Walton grade was 3.3 ± 1.7. The strength grade of the knee extensors was not correlated with the Mercuri scale for the quadriceps (r = –0.247, p = 0.115). However, the Medical Research Council grades of the knee flexors, ankle dorsiflexors, and ankle plantar flexors were significantly correlated with the Mercuri scale ratings of the knee flexors (r = –0.497, p = 0.001), tibialis anterior (r = –0.727, p < 0.001), and ankle plantar flexors (r = –0.620, p < 0.001), respectively. T1-weighted MR images showed characteristic fatty replacement patterns that were consistent with the causative genes. Unsupervised hierarchical clustering of the Mercuri scale showed that the main factors contributing to the dichotomy were the causative gene and the clinical severity. Conclusions: This study is the first to reveal the usefulness of lower-limb MR images in the differential diagnosis of distal myopathy in Korea.
Abstract
Background: Magnetic resonance (MR) images are useful for diagnosing myopathy. The purpose of this study was to determine the usefulness of lower-limb MR images in Korean patients with distal myopathy. Methods: We reviewed medical records in the myopathy database from January 2002 to October 2016. We selected 21 patients from 91 unrelated families with distal myopathy: four with GNE myopathy, 11 with dysferlinopathy, and six with ADSSL1 myopathy. Results: Ten (48%) of the 21 patients were men. The ages of the participants at symptom onset and imaging were 19.2 ± 9.5 and 30.4 ± 9.0 years (mean ± standard deviation), respectively. Their grade on the modified Gardner-Medwin and Walton grade was 3.3 ± 1.7. The strength grade of the knee extensors was not correlated with the Mercuri scale for the quadriceps (r = –0.247, p = 0.115). However, the Medical Research Council grades of the knee flexors, ankle dorsiflexors, and ankle plantar flexors were significantly correlated with the Mercuri scale ratings of the knee flexors (r = –0.497, p = 0.001), tibialis anterior (r = –0.727, p < 0.001), and ankle plantar flexors (r = –0.620, p < 0.001), respectively. T1-weighted MR images showed characteristic fatty replacement patterns that were consistent with the causative genes. Unsupervised hierarchical clustering of the Mercuri scale showed that the main factors contributing to the dichotomy were the causative gene and the clinical severity. Conclusions: This study is the first to reveal the usefulness of lower-limb MR images in the differential diagnosis of distal myopathy in Korea.
참고문헌 (14)
- Bonne G, "The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)", Neuromuscul Disord, 27, pp.1152~1183 (2017)
- Park HJ, "Distal myopathy with ADSSL1 mutations in Korean patients", Neuromuscul Disord, 27, pp.465~472 (2017)
- Straub V, "TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25–26February 2011, Rome, Italy", Neuromuscul Disord, 22(Suppl 2), pp.S42~S53 (2012)
- Díaz-Manera J, "Muscle MRI in muscular dystrophies", Acta Myol, 34, pp.95~108 (2015)
- Kinali M, "Muscle histology vs MRI in Duchenne muscular dystrophy", Neurology, 76, pp.346~353 (2011)
- Fanin M, "Muscle pathology in dysferlin deficiency", Neuropathol Appl Neurobiol, 28, pp.461~470 (2002)
- Fischer D, "Different early pathogenesis in myotilinopathy compared to primary desminopathy", Neuromuscul Disord, 16, pp.361~367 (2006)
- Jungbluth H, "Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations", Neuromuscul Disord, 14, pp.785~790 (2004)
- Eisenberg I, "The UDP-N-acetylglucosamine 2-epimerase", N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy, 2001, pp.29, 83~87
- 심재은, "Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy", Yonsei Medical Journal, 54(3), pp.578~582 (2013), 연세대학교의과대학[DOI]
- Liu J, "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy", Nat Genet, 20, pp.31~36 (1998)
- 박형준, "Heterogeneous Characteristics of Korean Patients with Dysferlinopathy", Journal of Korean Medical Science, 27(4), pp.423~429 (2012), 대한의학회[DOI]
- Paradas C, "Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies", Neurology, 75, pp.316~323 (2010)
- Tasca G, "Muscle imaging findings in GNE myopathy", J Neurol, 259, pp.1358~1365 (2012)