Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy

被引：3
作者：
Hamel, Johanna [1 ]
Tawil, Rabi [1 ]
机构：
[1] Univ Rochester, Dept Neurol, Med Ctr, 601 Elmwood Ave,Box 673, Rochester, NY 14642 USA
来源：
NEUROLOGIC CLINICS | 2020年 / 38卷 / 03期
关键词：
Facioscapulohumeral muscular dystrophy; DUX4; SMCHD1; Epigenetic; Hypomethylation; Muscle pathology;
D O I：
10.1016/j.ncl.2020.03.003
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Facioscapulohumeral muscular dystrophy is the second most common adult muscular dystrophy and is caused by DUX4 protein. DUX4 is expressed when the locus on chromosome 4q35 is hypomethylated. The clinical features can be nearly pathognomonic with facial weakness, scapular winging, and abdominal weakness with a positive Beevor sign. Diagnosis of late-onset or milder disease is often more challenging. Diseases mimicking the facioscapulohumeral muscular dystrophy phenotype should be recognized. We present 6 cases to illustrate both clinical and genetic diagnostic challenges in facioscapulohumeral muscular dystrophy and provide examples on how to navigate the different steps of genetic testing. © 2020 Elsevier Inc.
引用
收藏
页码：529 / 540
页数：12
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