Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1
| Autor: | Tina Duong, Kiera Berggren, Craig Campbell, Tetsuo Ashizawa, Leah Hellerstein, Chiara Marini-Bettolo, Anne Berit Ekström, Nicholas E. Johnson, Nathalie Angeard, Valeria A. Sansone, Eugenio Zapata Aldana, Cuixia Tian |
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| Rok vydání: | 2019 |
| Předmět: |
Pediatrics
medicine.medical_specialty Population Psychological intervention MEDLINE Review Myotonic dystrophy 03 medical and health sciences 0302 clinical medicine Quality of life medicine education education.field_of_study business.industry Triplet repeat Pediatric age medicine.disease 3. Good health 030211 gastroenterology & hepatology Neurology (clinical) Age of onset business 030217 neurology & neurosurgery |
| Zdroj: | Paediatrics Publications Neurology: Clinical Practice |
| ISSN: | 2163-0933 2163-0402 |
| Popis: | Purpose of reviewMyotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) or in the pediatric age range (childhood-onset myotonic dystrophy). These children have a range of disabilities that reduce the lifespan and cause significant morbidity. Currently, there are no agreed upon recommendations for caring for these children.Recent findingsThe Myotonic Dystrophy Foundation recruited 11 international clinicians who are experienced with congenital and childhood-onset myotonic dystrophy to create consensus-based care recommendations. The experts used a 2-step methodology using elements of the single text procedure and nominal group technique. Completion of this process has led to the development of clinical care recommendations for this population.SummaryChildren with myotonic dystrophy often require monitoring and interventions to improve the lifespan and quality of life. The resulting recommendations are intended to standardize and improve the care of children with myotonic dystrophy. |
| Databáze: | OpenAIRE |
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