EP.26Phenotype may predict the clinical severity of facioscapulohumeral muscular dystrophy

The precise classification of FSHD is crucial for deepening the understanding of disease as well as the efficient diagnosis and follow-up. We aimed to explore the difference of clinical severity in FSHD patients classified by the Comprehensive Clinical Evaluation Form (CCEF). Totally 54 Chinese FSHD1 patients, diagnosed by molecular combing or southern blot, were classified by CCEF, proposed by the Italian Clinical Network for FSHD. All patients were evaluated by structured questionnaire, as well as the manual muscle test (MMT), FSHD clinical score (CS), Ricci score (CSS), 6-minute walking test (6MWT) and motor function measure (MFM).

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: Y. Liu, D. Yue, W. Zhu, J. Li, S. Cai, S. Luo, J. Xi, J. Lin, J. Lu, L. Zhou, Z. Liang, J. Lu, C. Zhao Source Type: research