2018
DOI: 10.1136/archdischild-2018-314837
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Myotonic dystrophy type 1: clinical manifestations in children and adolescents

Abstract: The health consequences of DM1 in childhood are diverse, highlighting the need for paediatric multidisciplinary management approaches that encompass key areas of cognition, musculoskeletal, gastrointestinal, respiratory, cardiac and sleep issues.

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Cited by 37 publications
(27 citation statements)
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“…In congenital-onset DM1, intellectual disability is a consistent finding, and is frequently accompanied by additional neurodevelopmental diagnoses including autism spectrum disorders ( 6 8 ). In infantile- and juvenile-onset forms, learning difficulties are often present, but are typically milder than those seen in congenital-onset DM1 ( 9 ). Educational attainment in these groups may however be further compromised by concomitant attention deficit, autism spectrum or anxiety disorders ( 7 , 10 , 11 ).…”
Section: Introductionmentioning
confidence: 99%
“…In congenital-onset DM1, intellectual disability is a consistent finding, and is frequently accompanied by additional neurodevelopmental diagnoses including autism spectrum disorders ( 6 8 ). In infantile- and juvenile-onset forms, learning difficulties are often present, but are typically milder than those seen in congenital-onset DM1 ( 9 ). Educational attainment in these groups may however be further compromised by concomitant attention deficit, autism spectrum or anxiety disorders ( 7 , 10 , 11 ).…”
Section: Introductionmentioning
confidence: 99%
“…CDM represents the most severe form of the disease and is characterized by hypotonia, feeding difficulties and respiratory distress at birth 6 . Children with CDM experience weakness and cognitive impairment, with delayed motor milestones and behavioral difficulties 6‐8 . Muscle strength improves in early childhood, with behavioral and cognitive impairments becoming the predominant symptoms 9,10 .…”
Section: Introductionmentioning
confidence: 99%
“…In juvenile patients, clinical phenotype is much more similar to classical adult form with mild distal weakness and delayed muscle contraction, and accompanies other features aforementioned in the adult form. In these patients, serum CK is moderately high, and NCS is normal or shows decreased distal CMAPs, and EMG shows myopathic features with typical myotonic discharges, and repetitive nerve stimulation test reveals decrement at 10 Hz, which leads to genetic testing of DMPK gene [1,2,11,38].…”
Section: Myotonic Dystrophy Type 1 and Congenital Myotonicmentioning
confidence: 97%