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Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong

The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systema...

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Autores principales: Chan, Sophelia H. S., Lo, Ivan F. M., Cherk, Sharon W. W., Cheng, Wai Wai, Fung, Eva L. W., Yeung, Wai Lan, Ngan, Mary, Lee, Wing Cheong, Kwong, Ling, Wong, Suet Na, Ma, Che Kwan, Tai, Shuk Mui, Ng, Grace S. F., Wu, Shun Ping, Wong, Virginia C. N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417024/
https://www.ncbi.nlm.nih.gov/pubmed/28503591
http://dx.doi.org/10.1177/2329048X15585345
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author Chan, Sophelia H. S.
Lo, Ivan F. M.
Cherk, Sharon W. W.
Cheng, Wai Wai
Fung, Eva L. W.
Yeung, Wai Lan
Ngan, Mary
Lee, Wing Cheong
Kwong, Ling
Wong, Suet Na
Ma, Che Kwan
Tai, Shuk Mui
Ng, Grace S. F.
Wu, Shun Ping
Wong, Virginia C. N.
author_facet Chan, Sophelia H. S.
Lo, Ivan F. M.
Cherk, Sharon W. W.
Cheng, Wai Wai
Fung, Eva L. W.
Yeung, Wai Lan
Ngan, Mary
Lee, Wing Cheong
Kwong, Ling
Wong, Suet Na
Ma, Che Kwan
Tai, Shuk Mui
Ng, Grace S. F.
Wu, Shun Ping
Wong, Virginia C. N.
author_sort Chan, Sophelia H. S.
collection PubMed
description The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower.
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spelling pubmed-54170242017-05-11 Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong Chan, Sophelia H. S. Lo, Ivan F. M. Cherk, Sharon W. W. Cheng, Wai Wai Fung, Eva L. W. Yeung, Wai Lan Ngan, Mary Lee, Wing Cheong Kwong, Ling Wong, Suet Na Ma, Che Kwan Tai, Shuk Mui Ng, Grace S. F. Wu, Shun Ping Wong, Virginia C. N. Child Neurol Open Article The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower. SAGE Publications 2015-05-26 /pmc/articles/PMC5417024/ /pubmed/28503591 http://dx.doi.org/10.1177/2329048X15585345 Text en © The Author(s) 2015 http://creativecommons.org/licenses/by-nc/3.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (http://www.uk.sagepub.com/aboutus/openaccess.htm).
spellingShingle Article
Chan, Sophelia H. S.
Lo, Ivan F. M.
Cherk, Sharon W. W.
Cheng, Wai Wai
Fung, Eva L. W.
Yeung, Wai Lan
Ngan, Mary
Lee, Wing Cheong
Kwong, Ling
Wong, Suet Na
Ma, Che Kwan
Tai, Shuk Mui
Ng, Grace S. F.
Wu, Shun Ping
Wong, Virginia C. N.
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong
title Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong
title_full Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong
title_fullStr Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong
title_full_unstemmed Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong
title_short Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong
title_sort prevalence and characteristics of chinese patients with duchenne and becker muscular dystrophy: a territory wide collaborative study in hong kong
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417024/
https://www.ncbi.nlm.nih.gov/pubmed/28503591
http://dx.doi.org/10.1177/2329048X15585345
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