Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine.
Acta Myol
; 38(1): 25-28, 2019 03.
Article
em En
| MEDLINE
| ID: mdl-31309179
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular Facioescapuloumeral
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
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Humans
/
Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article