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J Korean Neurol Assoc. 2009;27(1):42-48.
- Clinical Features and Genetic Analysis of Fascioscapulohumeral
Muscular Dystrophy
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Ji-Man Hong
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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
- 얼굴어깨위팔근육디스트로피의 임상적 특징과
유전학적 분석
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홍지만, 김승민 선우일남 서권덕 심동석 서범천a 김대성b 조정희c 최영철
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연세대학교 의과대학 신경과학교실, 강북삼성병원 신경과a, 양산부산대학교병원 신경과b, 국민건강보험공단 일산병원 신경과c
- 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
Keywords :
- 초록
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