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Title: Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine
Authors: Papadopoulos, Constantinos 
Zouvelou, Vasiliki 
Papadimas, George Konstantinos 
Major Field of Science: Social Sciences
Field Category: Economics and Business
Keywords: Emery-Dreifuss muscular dystrophy;facioscapulohumeral muscular dystrophy;facioscapulohumeral muscular dystrophyj
Issue Date: 2019
Source: Acta myologica, 2019, vol. 38, no. 1, pp. 25-28
Volume: 38
Issue: 1
Start page: 25
End page: 28
Journal: Acta Myologica: Myopathies and Cardiomyopathies 
Abstract: Early joint contractures in childhood or adolescence irrespective of muscle weakness are usually found in Emery-Dreifuss muscular dystrophy and collagen-VI related diseases and only rarely in the early stages of other progressive muscular dystrophies. We report a patient presenting severe elbow contractures and a rigid-spine since his early childhood without any evident muscle weakness, who was diagnosed with facioscapulohumeral muscular dystrophy later in life. This case is interesting since there has been no report, to date, of patients with a phenotype resembling facioscapulohumeral muscular dystrophy also in association with early and prominent elbow contractures and spinal rigidity, since childhood, resembling Emery-Dreifuss muscular dystrophy. Our case further confirmed the phenotypic variability often observed in carriers of D4Z4 reduce allele, and highlights the complexity of a definitive diagnosis in these cases.
ISSN: 1128-2460
Rights: © Pacini Editore S.p.A
Type: Article
Affiliation : National and Kapodistrian University of Athens 
Cyprus University of Technology 
Appears in Collections:Άρθρα/Articles

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