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Journal of the Korean Academy of Rehabilitation Medicine 2007;31(1):113-118.
A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy: A case report.
Kim, Hyoung Seop , Lee, Sang Chul , Cho, Soo Kyoung , Park, Yong Bum , Lee, Soo Hyun , Moon, Jae Ho , Park, Yoon Ghil
1Department of Rehabilitation Medicine and Rehabilitation Institute of Muscular Disease, Yonsei University College of Medicine, Korea. drtlc@yumc.yonsei.ac.kr
2Kangnam Community Health Center. Korea.
원위형 척수성 근위축증과 감별된 제III형 근위형 척수성 근위축증 1례 ⁣증례 보고⁣
김형섭, 이상철, 조수경, 박용범, 이수현1, 문재호, 박윤길
연세대학교 의과대학 재활의학교실 및 근육병재활연구소, 1강남구 보건소
Abstract
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb girdle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases. (J Korean Acad Rehab Med 2007; 31: 113-118)
Key Words: Motor neuron disease, Proximal spinal muscular atrophy type III, Survivor motor neuron gene
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