Original ArticleCongenital Myotonic Dystrophy: Canadian Population-Based Surveillance Study
Section snippets
Methods
A 5-year surveillance study, from March 1, 2005-February 28, 2010, was undertaken through the CPSP. This program is a partnership between the Canadian Pediatric Society and the Public Health Agency of Canada and has been successfully collecting data on rare diseases since 1996 (http://www.cps.ca/English/surveillance/cpsp/index.htm). The CPSP surveys over 2500 pediatricians and pediatric subspecialists each month through a mail out, which is a single-page form listing of all the rare diseases
Results
The average annual CPSP response rate during the study was 80% (range 69%-100%, Table I). Throughout the CPSP study, there were 121 cases reported. Of these, 38 met the inclusion criteria and were confirmed as incident cases. Table II demonstrates that one-third of the reported cases were duplicates, meaning 2 different pediatricians reported the same child. This was easily evident by timing of reporting, date of birth, and location. Two cases are still of unresolved (pending or unknown) status
Discussion
Our study indicates that the incidence of CDM in Canada is 2.1 children for every 100 000 live births (1/47 619 live births). This incidence figure is lower than previously reported; however the population-based active surveillance carried out in this study is an important methodologic advance over past incidence studies, described in more detail below. Although the incidence of CDM has been estimated at 1 in every 3500 to 16 000 births by others, these have not been national population-based
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2021, Neuromuscular DisordersCitation Excerpt :In patients with αDG-CMD the diagnosis can be challenging because of the broad clinical spectrum and if muscle immunoanalysis is not available or findings are difficult to interpret. The typical brain malformations can then be the most suggestive diagnostic findings [28]. Where CMD is suspected in a child, founder mutations may help predict a particular subtype, as is the case for FCMD in patients of Japanese origin, WWS in Ashkenazi Jewish and a cluster of a specific POMT1 gene mutation in the Turkish population [36].
Chylothorax as a complication of congenital myotonic dystrophy: A retrospective cohort study
2021, Early Human DevelopmentCitation Excerpt :Respiratory difficulty is the principal cause of death [8,10–12]. A prospective study found that 53% of infants with CMD required ventilatory support; respiratory difficulty included raised hemidiaphragm, pulmonary hypoplasia, pneumonia, bronchopulmonary dysplasia, pneumothorax, and apnea [13]; chylothorax was not reported. Few reports have described chylothorax as a complication of CMD and case reports include only one or two cases [14–16].
Funded by the William Singeris Center for Myotonic Dystrophy at the Child Health Research Institute. The authors declare no conflicts of interest.