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. 2015 May 26;2(2):2329048X15585345.
doi: 10.1177/2329048X15585345. eCollection 2015 Apr-Jun.

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

Sophelia H S Chan  1 , Ivan F M Lo  2 , Sharon W W Cherk  3 , Wai Wai Cheng  4 , Eva L W Fung  5 , Wai Lan Yeung  6 , Mary Ngan  7 , Wing Cheong Lee  7 , Ling Kwong  7 , Suet Na Wong  8 , Che Kwan Ma  8 , Shuk Mui Tai  9 , Grace S F Ng  10 , Shun Ping Wu  11 , Virginia C N Wong  1
Affiliations

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

Sophelia H S Chan et al. Child Neurol Open. .

Abstract

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.

Keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; Duchenne muscular dystrophy gene mutation; dystrophinopathy; neuromuscular disorder; prevalence.

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Conflict of interest statement

Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Number of patients with Duchenne muscular dystrophy and Becker muscular dystrophy at different age range in years.
Figure 2.
Figure 2.
Box and whiskers for steroid starting age (n = 21) and steroid stopping age (n = 12) in years.
Figure 3.
Figure 3.
Box and whiskers for the age of scoliosis surgery (n = 14) in years.
Figure 4.
Figure 4.
Box and whiskers for noninvasive ventilation (NIV) starting age (n = 20) in years.
Figure 5.
Figure 5.
Box and whiskers for cardiac drug starting age (n = 24) in years.
Figure 6.
Figure 6.
Schematic diagram illustrating the distribution of the small mutations. Vertical rectangles represent different exons of the Duchenne muscular dystrophy gene. Arrows in red = Duchenne muscular dystrophy; arrows in green = Becker muscular dystrophy.
See this image and copyright information in PMC

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