伴有声带麻痹和感音神经性听力损失的遗传性远端肌肉萎缩症：脊髓性肌萎缩症的一种显性形式？
Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?
作者信息
Boltshauser E, Lang W, Spillmann T, Hof E
机构信息
Department of Pediatrics, University of Zürich, Switzerland.
出版信息
J Med Genet. 1989 Feb;26(2):105-8. doi: 10.1136/jmg.26.2.105.
Abstract
In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the classification of this dominant disorder with the spinal muscular atrophies is justified will depend on additional studies in further families.
摘要
1980年，扬和哈珀描述了一个患有与声带麻痹相关的特殊形式的远端脊髓性肌萎缩症的家族。我们报告了一个有三名症状相似患者的家族。进行性感觉神经性听力损失是我们患者的另一个特征。电生理和组织学研究并未排除感觉神经元受累的情况。这种显性疾病与脊髓性肌萎缩症的分类是否合理将取决于对更多家族的进一步研究。
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