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Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.家族性不对称性远端上肢肌萎缩症（平山病）：一个希腊家族的报告。
Neurologist. 2009 May;15(3):156-60. doi: 10.1097/NRL.0b013e31818d6717.
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Clinical and genetic study of spinal muscular atrophies in Oman.阿曼脊髓性肌萎缩症的临床与遗传学研究。
J Child Neurol. 2007 Oct;22(10):1227-30. doi: 10.1177/0883073807306268.
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Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.印度患者中SMN和NAIP基因缺失模式与脊髓性肌萎缩症临床特征的相关性
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134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.第134届欧洲神经肌肉疾病中心国际研讨会：脊髓性肌萎缩症的疗效评估与治疗，2005年2月11日至13日，荷兰纳尔登
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Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.沙特脊髓性肌萎缩症患者脊髓性肌萎缩症及神经元凋亡抑制蛋白基因的分子分析
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MRI findings in Hirayama's disease: flexion-induced cervical myelopathy or intrinsic motor neuron disease?平山病的磁共振成像表现：屈曲性颈髓病还是原发性运动神经元病？
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Segmental distribution of muscle weakness in SMA III: implications for deterioration in muscle strength with time.
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局限于下肢的节段性脊髓性肌萎缩：阿曼首例病例。

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

作者信息

Koul Roshan, Al-Futaisi Amna, Al-Thihli Khalid, Bruwer Zandre, Scott Patrick

机构信息

Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.

Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.

出版信息

Sultan Qaboos Univ Med J. 2017 Aug;17(3):e355-e357. doi: 10.18295/squmj.2017.17.03.018. Epub 2017 Oct 10.

DOI:10.18295/squmj.2017.17.03.018
PMID:29062563
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5642370/
Abstract

Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the gene confirmed the diagnosis of SMA. To the best of the authors' knowledge, this is the first report of an Omani patient with segmental SMA involving only the lower limbs. Treatment for this rare and relatively benign form of SMA is symptomatic and includes physiotherapy.

摘要

脊髓性肌萎缩症（SMA）是一种遗传性下运动神经元疾病。它通常累及脊髓前角细胞所支配的所有骨骼肌。在罕见情况下，也会出现脊髓局部受累。我们报告一名10岁男孩，于2015年就诊于阿曼马斯喀特的苏丹卡布斯大学医院，其肌无力仅局限于下肢。该基因内纯合缺失的存在证实了SMA的诊断。据作者所知，这是首例关于仅累及下肢的节段性SMA阿曼患者的报告。这种罕见且相对良性的SMA形式的治疗是对症治疗，包括物理治疗。