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Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis.

 Heewon Hwang  ;  Jung Hwan Lee  ;  Young-Chul Choi 
 YONSEI MEDICAL JOURNAL, Vol.58(5) : 1051-1054, 2017 
Journal Title
Issue Date
Adolescent ; Biopsy ; Child ; Child, Preschool ; Electrodiagnosis ; Female ; Genetic Testing* ; Humans ; Infant ; Infant, Newborn ; Male ; Muscle, Skeletal/pathology ; Muscular Atrophy, Spinal/genetics* ; Muscular Atrophy, Spinal/pathology* ; Reproducibility of Results ; Republic of Korea ; Retrospective Studies
SMN 1 ; Spinal muscular atrophy ; Survival Motor Neuron 1 ; scoliosis
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records. Of all 28 patients (15 males and 13 females), all showed bilateral symmetric proximal dominant weakness. Among them, 3 patients were classified as type I, 14 patients as type II, and 11 patients as type III. Twenty-five patients had scoliosis and eight of these patients received surgical treatment for scoliosis with improvement in clinical outcomes. Ventilator support was used in 15 patients. In terms of the diagnostic process, 15 patients had completed an electrodiagnostic study and muscle biopsy before genetic testing, and six of these patients were initially misdiagnosed with myopathy. Owing to the similar clinical features of SMA and congenital myopathy, an electrodiagnostic study and muscle biopsy could create confusion in the correct diagnosis in some cases. Therefore, it is recommended that genetic mutation analysis should be conducted along with an electrodiagnostic study or muscle biopsy in the diagnostic process for spinal muscular atrophy.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jung Hwan(이정환)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hwang, Hee Won(황희원)
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