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Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy
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 be...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Hindawi Publishing Corporation
2012
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3457597/ https://www.ncbi.nlm.nih.gov/pubmed/23024867 http://dx.doi.org/10.1155/2012/726984 |
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author | Fee, Dominic B. |
author_facet | Fee, Dominic B. |
author_sort | Fee, Dominic B. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3457597 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-34575972012-09-28 Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy Fee, Dominic B. Case Rep Neurol Med Case Report 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. Hindawi Publishing Corporation 2012 2012-09-18 /pmc/articles/PMC3457597/ /pubmed/23024867 http://dx.doi.org/10.1155/2012/726984 Text en Copyright © 2012 Dominic B. Fee. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Fee, Dominic B. Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy |
title | Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy |
title_full | Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy |
title_fullStr | Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy |
title_full_unstemmed | Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy |
title_short | Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy |
title_sort | elderly onset of weakness in facioscapulohumeral muscular dystrophy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3457597/ https://www.ncbi.nlm.nih.gov/pubmed/23024867 http://dx.doi.org/10.1155/2012/726984 |
work_keys_str_mv | AT feedominicb elderlyonsetofweaknessinfacioscapulohumeralmusculardystrophy |