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Journal of the Korean Neurological Association 2009;27(1): 42-48.
얼굴어깨위팔근육디스트로피의 임상적 특징과 유전학적 분석
홍지만, 김승민 선우일남 서권덕 심동석 서범천a 김대성b 조정희c 최영철
연세대학교 의과대학 신경과학교실, 강북삼성병원 신경과a, 양산부산대학교병원 신경과b, 국민건강보험공단 일산병원 신경과c
Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy
Ji-Man Hong
Departments of Neurology, Yonsei University College of Medicine, Kangbuk Samsung Hospitala, Seoul, Korea Pusan National University Yangsan Hospitalb, Yangsan, Korea National Health Insurance Corporation Ilsan Hospitalc, 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 wheelchairbound 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. Key Words: Facioscapulohumeral muscular dystrophy, Clinical characteristics, Severity, Genotype