Objective: Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood.Methods: Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years. Each cohort received age-appropriate evaluations including functional testing, oral facial strength testing, neuropsychological testing, quality-of-life measurements, and ECG. Independent-samples t test or Wilcoxon 2-sample test was used to compare the differences between children with CDM and controls. Probability values less than 0.05 are reported as significant. Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multisystemic disorder that is caused by a CTG n repeat in the DMPK gene. Results:1-3 Congenital myotonic dystrophy (CDM) represents the most severe form of myotonic dystrophy and results from a large expansion of the CTG n repeat between parent and child. Symptoms are present at birth and include severe hypotonia, respiratory failure, gastroparesis, and talipes equinovarus. 4,5 These symptoms are distinct from those described in adults with DM1, who typically present with distal weakness, myotonia, and early-onset cataracts. During the first year of life, there is a 30% mortality for those infants ventilated for greater than 3 months. 6 Beyond the first year of life, there is limited information about the natural history of CDM.Clinically, children with CDM are observed to have significant improvement in respiratory and motor areas; however, as patients get older, myotonia, cardiac arrhythmias, and other features typical of adult-onset DM1 emerge. Both intellectual impairment and oral facial weakness cause significant burden during childhood. 7,8 In addition to intellectual impairment, there is evidence of autism spectrum disorder and attention-deficit/hyperactivity disorder. 7,9 A prior cross-sectional survey study identified difficulty with communication and problems with hands From the Departments of Neurology
Introduction Congenital Myotonic Dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. This study evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials. Methods CDM participants performed timed functional tests (TFTs), The first 2 minutes of the 6-minute walk test (2/6MWT), myometry, and dual-energy x-ray absorption (DEXA) scans. Healthy controls (HC) performed TFTs, 6MWT, and myometry. Results Thirty-seven children with CDM and 27 HC, ages 3-13, participated. There were significant differences in the 10-meter walk (11.3s in CDM vs 6.8s in HC) and 2MWT (91m in CDM vs 193m in HC). DEXA lean mass of the right arm correlated with grip strength (r=0.91), and lean mass of right leg with 6MWT (r=0.62). Conclusion Children with CDM have significant limitations in strength and mobility. The tests performed were reliable, and lean muscle mass may serve as a useful biomarker.
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