A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Neurology ◽  
2019 ◽  
Vol 92 (8) ◽  
pp. e852-e865 ◽  
Author(s):  
Emmanuelle Lagrue ◽  
Céline Dogan ◽  
Marie De Antonio ◽  
Frédérique Audic ◽  
Nathalie Bach ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Transmission Rate ◽  
Gastrointestinal Symptoms ◽  
Autism Spectrum ◽  
Evidence Based ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Juvenile Form ◽  
Cross Sectional

ObjectiveTo genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.MethodsAmong the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed.ResultsWe studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce.ConclusionsThe pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning.

High prevalence of cardiac involvement in patients with myotonic dystrophy type 1: A cross-sectional study

2014 ◽  
Vol 174 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Helle Petri ◽  
Nanna Witting ◽  
Mads Kristian Ersbøll ◽  
Ahmad Sajadieh ◽  
Morten Dunø ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Cross Sectional Study ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Sectional Study ◽  
Cross Sectional ◽  
High Prevalence

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

2017 ◽  
Vol 27 ◽  
pp. S177-S178 ◽  
Author(s):  
E. Lagrue ◽  
C. Dogan ◽  
M. De Antonio ◽  
G. Bassez ◽  
D. Hamroun ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Multicenter Study ◽  
Evidence Based ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Large Multicenter Study

Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms

2008 ◽  
Vol 147B (6) ◽  
pp. 918-926 ◽  
Author(s):  
Anne-Berit Ekström ◽  
Louise Hakenäs-Plate ◽  
Lena Samuelsson ◽  
Már Tulinius ◽  
Elisabet Wentz
Keyword(s):  
Myotonic Dystrophy ◽  
Autism Spectrum ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Is there a difference in gastric emptying between myotonic dystrophy type 1 patients with and without gastrointestinal symptoms?

2013 ◽  
Vol 260 (6) ◽  
pp. 1611-1616 ◽  
Author(s):  
Yuji Tanaka ◽  
Tomohiro Kato ◽  
Hiroshi Nishida ◽  
Megumi Yamada ◽  
Akihiro Koumura ◽  
...  
Keyword(s):  
Gastric Emptying ◽  
Myotonic Dystrophy ◽  
Gastrointestinal Symptoms ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1

2020 ◽  
Vol 38 ◽  
Author(s):  
Patrícia Sofia Ferreira Miranda ◽  
Ester Preciosa Maio Nunes Pereira ◽  
Joana Serra Caetano Baltazar Barreto ◽  
Margarida Maria Videira Henriques ◽  
Maria Alice Santos Cordeiro Mirante ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Myotonic Dystrophy ◽  
External Genitalia ◽  
Tanner Stage ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Kinase Gene

ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.

scholarly journals Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1

2021 ◽  
Vol 7 (2) ◽  
pp. e577
Author(s):  
Ellen van der Plas ◽  
Timothy R. Koscik ◽  
Vincent Magnotta ◽  
Sarah A. Cumming ◽  
Darren Monckton ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cognitive Abilities ◽  
Rating Scale ◽  
Cross Sectional Study ◽  
Finger Tapping ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Cross Sectional ◽  
Functional Features

ObjectiveThe goal of the study was to identify brain and functional features associated with premanifest phases of adult-onset myotonic dystrophy type 1 (i.e., PreDM1).MethodsThis cross-sectional study included 68 healthy adults (mean age = 43.4 years, SD = 12.9), 13 individuals with PreDM1 (mean age: 47.4 years, SD = 16.3), and 37 individuals with manifest DM1 (mean age = 45.2 years, SD = 9.3). The primary outcome measures included fractional anisotropy (FA), motor measures (Muscle Impairment Rating Scale, Grooved Pegboard, Finger-Tapping Test, and grip force), general cognitive abilities (Wechsler Adult Intelligence Scales), sleep quality (Scales for Outcomes in Parkinson's Disease–Sleep), and apathy (Apathy Evaluation Scale).ResultsIndividuals with PreDM1 exhibited an intermediate level of white matter FA abnormality, where whole-brain FA was lower relative to healthy controls (difference of the estimated marginal mean [EMMdifference] = 0.02, 95% confidence interval (CI) 0.01–0.03, p < 0.001), but the PreDM1 group had significantly higher FA than did individuals with manifest DM1 (EMMdifference = 0.02, 95% CI 0.009–0.03, p < 0.001). Individuals with PreDM1 exhibited reduced performance on the finger-tapping task relative to control peers (EMMdifference = 5.70, 95% CI 0.51–11.00, p = 0.03), but performance of the PreDM1 group was better than that of the manifest DM1 group (EMMdifference = 5.60, 95% CI 0.11–11.00, p = 0.05). Hypersomnolence in PreDM1 was intermediate between controls (EMMdifference = −1.70, 95% CI −3.10–0.35, p = 0.01) and manifest DM1 (EMMdifference = −2.10, 95% CI −3.50–0.60, p = 0.006).ConclusionsOur findings highlight key CNS and functional deficits associated with PreDM1, offering insight in early disease course.

scholarly journals Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Sigrid Baldanzi ◽  
Francesca Bevilacqua ◽  
Rita Lorio ◽  
Leda Volpi ◽  
Costanza Simoncini ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cross Sectional Study ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Sectional Study ◽  
Cross Sectional ◽  
Disease Awareness
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