J Korean Neurol Assoc.  2009 Feb;27(1):42-48.

Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy

• Hong JM
• Kim SM
• Sunwoo IN
• Seo KD
• Shim DS
• Suh BC
• Kim DS
• Cho JH
• Choi YC

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.

Keyword

Facioscapulohumeral muscular dystrophy; Clinical characteristics; Severity; Genotype

MeSH Terms

Contracts
Eye
Facial Muscles
Genotype
Humans
Muscle Weakness
Muscles
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Phenotype
Shoulder