A LARGE NEW-ENGLAND KINDRED WITH AUTOSOMAL DOMINANT NEUROGENIC SCAPULOPERONEAL AMYOTROPHY WITH UNIQUE FEATURES
A LARGE NEW-ENGLAND KINDRED WITH AUTOSOMAL DOMINANT NEUROGENIC SCAPULOPERONEAL AMYOTROPHY WITH UNIQUE FEATURES
复制标题
DOI：
10.1001/archneur.1992.00530330027010
复制
发表时间：
1992-09-01
影响因子：
--
通讯作者：
SIDDIQUE, T
中科院分区：
文献类型：
--
作者：
DELONG, R;SIDDIQUE, T
我们描述了一个大的新英格兰亲属轴承常染色体显性遗传综合征的神经源性肌萎缩与变量表达。特征包括先天性肌肉缺失、进行性肩胛腓肌萎缩、喉麻痹和进行性远端无力和萎缩。表达和进展的模式在家庭的不同分支中有所不同。男性比女性受影响更严重。在后续（第三和第四）代中，疾病表现更加严重且进行性。这种严重程度和进展性在后代中的显著增加可能具有遗传意义。该综合征最类似于斯塔克-凯撒慢性肩胛腓肌萎缩症，但被认为是一个独特的实体。
We describe a large New England kindred bearing an autosomal dominant syndrome of neurogenic amyotrophy with variable expression. Features include congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and atrophy. The pattern of expression and progression varies in different branches of the family. Males are more severely affected than females. Disease expression is more severe and progressive in succeeding (third and fourth) generations. This striking increase in severity and progressivity in succeeding generations may have genetic implications. The syndrome most resembles the Stark-Kaeser chronic scapuloperoneal amyotrophy, but is considered a distinct entity.