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J Korean Neurol Assoc. 2009 Feb;27(1):42-48. Korean. Original Article.
Hong M , Kim SM , Sunwoo IN , Seo KD , Shim DS , Suh BC , Kim DS , Cho JH , Choi YC .
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
Department of Neurology, Kangbuk Samsung Hospital, Seoul, Korea.
Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea.
Department of Neurology, KoreaNational Health Insurance Corporation Ilsan Hospital, Goyang, Korea.
Abstract

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between contracted D4Z4-repeat size and the FSHD phenotype. METHODS: We studied 34 genetically confirmed patients who had repeat sizes less than 38 kb, and analyzed their clinical manifestations with a structured protocol. The expressed phenotypes were scored according to the Clinical Severity Score formulated by Ricci and van Overveld. RESULTS: The clinical spectrum ranged widely, from asymptomatic individuals with minimal signs to wheelchair- bound patients. The initial affects were mainly in the facial muscles (68.8%), followed by the shoulder-girdle muscle (28.1%). Asymmetric features of the face and shoulder girdle were also important findings (71.9% and 90.0%, respectively). Winging scapular (87.5%), transverse smile (84.4%), Beevor's sign (68.8%), and sleeping with eyes opened (59.4%) were clinically important signs. There was a significant negative correlation between repeat size and clinical severity (r=-0.38, p=0.03). CONCLUSIONS: Distinctive clinical characteristics of FSHD are descending progression and asymmetric distribution of the muscle weakness. Our results also confirmed that the severity of FSHD increases with decreasing D4Z4-repeat size.

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