远端遗传性上肢肌肉萎缩
Distal hereditary upper limb muscular atrophy.
作者信息
Gross D W, Rajput A H, Yeung M
机构信息
University of Saskatchewan, Saskatoon, Canada.
出版信息
J Neurol Neurosurg Psychiatry. 1998 Feb;64(2):217-20. doi: 10.1136/jnnp.64.2.217.
OBJECTIVES
To identify the clinical, electrophysiological, and genetic characteristics of a family with an unusual form of hereditary motor neuron disease.
METHODS
Surviving members of a pedigree in which affected members presented with weakness and atrophy of distal musculature in the upper limbs were examined clinically and electrophysiologically, and had genetic testing.
RESULTS
The disease was autosomal dominantly inherited and manifested as weakness and atrophy of distal musculature in the upper limbs, with minimal involvement of lower limbs, brisk reflexes, minimal sensory findings, and considerable variability in severity among the affected persons. Nerve conduction studies disclosed near normal motor conduction velocity, reduced motor compound action potential amplitude, prolonged distal motor latency, prolonged sensory latency, and normal sensory compound action potential amplitude. Needle electrode examination showed reduced number and increased size of motor unit potentials, but no fibrillations or fasciculations.
CONCLUSION
Distal upper limb muscular atrophy is a distinct clinical entity.
目的
确定一个患有特殊形式遗传性运动神经元病的家系的临床、电生理和遗传特征。
方法
对一个家系中存活的成员进行临床和电生理检查以及基因检测，该家系中受影响的成员表现为上肢远端肌肉无力和萎缩。
结果
该疾病为常染色体显性遗传，表现为上肢远端肌肉无力和萎缩，下肢受累轻微，反射亢进，感觉异常轻微，且患者之间严重程度差异较大。神经传导研究显示运动传导速度接近正常，运动复合动作电位幅度降低，远端运动潜伏期延长，感觉潜伏期延长，感觉复合动作电位幅度正常。针电极检查显示运动单位电位数量减少、大小增加，但无纤颤或肌束震颤。
结论
上肢远端肌肉萎缩是一种独特的临床实体。
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