Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy

被引：8
作者：
Figueroa, Juan J. [1 ]
Chapin, John E. [1 ]
机构：
[1] Univ New Mexico, Dept Neurol, Albuquerque, NM 87131 USA
来源：
JOURNAL OF NEUROLOGY | 2010年 / 257卷 / 03期
关键词：
Facioscapulohumeral dystrophy; Facial diplegia; Facial weakness; Myopathy; Limb-girdle muscular dystrophy; MUSCULAR-DYSTROPHY; 4Q35; DELETION; ANTICIPATION; EXPRESSION; TWINS; FSHD; GENE;
D O I：
10.1007/s00415-009-5346-5
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report two elderly siblings with atypical myopathic weakness due to facioscapulohumeral dystrophy (FSHD). The proband presented with isolated facial diplegia, and her brother developed late onset facial and limb-girdle weakness. Both siblings had a 4q35 deletion with the same residual fragment size (25 kb) confirming FSHD. This report highlights the clinical heterogeneity and intrafamily variability of FSHD.
引用
收藏
页码：444 / 446
页数：3
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