Key result
A 77-year-old male presented with one of the oldest onsets of weakness in genetically confirmed facioscapulohumeral muscular dystrophy, highlighting the expanded phenotype.
Case Report (n=1)
This case demonstrates that facioscapulohumeral muscular dystrophy can present with elderly onset of weakness, expanding the recognized clinical phenotype.
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May support considering FSHD in select elderly weakness; extends phenotype but remains hypothesis-generating.
A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and benign appearing muscle biopsy. This case is one of the oldest onset of weakness in genetically confirmed FSH and highlights the recognized expansion in phenotype that has occurred since the advent of genetic testing.
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Dominic B. Fee (2012) conducted a case report in Facioscapulohumeral muscular dystrophy (n=1). A 77-year-old male presented with one of the oldest onsets of weakness in genetically confirmed facioscapulohumeral muscular dystrophy, highlighting the expanded phenotype.
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