지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 1,051 - 1,054 (4page)
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초록· 키워드
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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, electrodiagnosticstudy 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.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Arkblad EL / 2006 / Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy / Neuromuscul Disord 16 : 830 ~ 838
Chou SH / 2017 / The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients / Eur Spine J 26 : 1721 ~ 1731
Faravelli I / 2015 / Spinal muscular atrophy--recent therapeutic advances for an old challenge / Nat Rev Neurol 11 : 351 ~ 359
Granata C / 1989 / Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis / Spine (Phila Pa 1976) 14 : 760 ~ 762
Gregoretti C / 2013 / Survival of patients with spinal muscular atrophy type 1 / Pediatrics 131 : e1509 ~ e1514
Chou SH / 2017 / The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients / Eur Spine J 26 : 1721 ~ 1731
Faravelli I / 2015 / Spinal muscular atrophy--recent therapeutic advances for an old challenge / Nat Rev Neurol 11 : 351 ~ 359
Granata C / 1989 / Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis / Spine (Phila Pa 1976) 14 : 760 ~ 762
Gregoretti C / 2013 / Survival of patients with spinal muscular atrophy type 1 / Pediatrics 131 : e1509 ~ e1514
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