AI Article Synopsis
- Early joint contractures in childhood or adolescence are commonly associated with Emery-Dreifuss muscular dystrophy and collagen-VI related diseases, but rare in other progressive muscular dystrophies.
- A patient with severe elbow contractures and a rigid spine was diagnosed with facioscapulohumeral muscular dystrophy later in life, showcasing an unusual presentation without prior muscle weakness.
- This case emphasizes the variability in muscular dystrophy phenotypes and the challenges in making accurate diagnoses, particularly in cases with reduced allele expressions.
Article 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 reduce allele, and highlights the complexity of a definitive diagnosis in these cases.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598404 | PMC |
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