HEREDITARY DISTAL MUSCULAR-ATROPHY WITH VOCAL CORD PARALYSIS AND SENSORINEURAL HEARING-LOSS - A DOMINANT FORM OF SPINAL MUSCULAR-ATROPHY
HEREDITARY DISTAL MUSCULAR-ATROPHY WITH VOCAL CORD PARALYSIS AND SENSORINEURAL HEARING-LOSS - A DOMINANT FORM OF SPINAL MUSCULAR-ATROPHY
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DOI：
10.1136/jmg.26.2.105
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发表时间：
1989-02-01
影响因子：
4
通讯作者：
HOF, E
中科院分区：
文献类型：
--
作者：
BOLTSHAUSER, E;LANG, W;HOF, E
1980年，杨和哈珀描述了一个与声带瘫痪相关的不寻常形式的远端脊髓性肌萎缩症家庭。我们报告了一个家庭，有三个类似的受试者。进行性感音神经性听力损失是我们患者的另一个特征。电生理和组织学检查不排除感觉神经元的参与。这种显性疾病与脊髓性肌萎缩症的分类是否合理，将取决于进一步的家系研究。
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.