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Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition?


Hayward-Koennecke, Helen K; Werth, Esther; Valko, Philipp O; Baumann, Christian R; Poryazova, Rositsa (2019). Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition? Journal of Clinical Sleep Medicine, 15(1):157-158.

Abstract

Sleep-related rhythmic movement disorder (RMD) is common in very young children but rarely persists beyond childhood. Despite its high frequency, the underlying pathophysiology remains unclear. Familial occurrence is rare. Here we present monozygotic female triplets, all of them being affected by body rolling in terms of RMD. Furthermore, they all present with an additional genetic disease, cystic fibrosis, with the same documented mutation of the cystic fibrosis transmembrane conductance regulator gene (F508del-CFTR). Because all three monozygotic siblings are concordant for RMD, genetic factors may contribute to the time course of the disorder.

Abstract

Sleep-related rhythmic movement disorder (RMD) is common in very young children but rarely persists beyond childhood. Despite its high frequency, the underlying pathophysiology remains unclear. Familial occurrence is rare. Here we present monozygotic female triplets, all of them being affected by body rolling in terms of RMD. Furthermore, they all present with an additional genetic disease, cystic fibrosis, with the same documented mutation of the cystic fibrosis transmembrane conductance regulator gene (F508del-CFTR). Because all three monozygotic siblings are concordant for RMD, genetic factors may contribute to the time course of the disorder.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Pulmonary and Respiratory Medicine
Life Sciences > Neurology
Health Sciences > Neurology (clinical)
Language:English
Date:15 January 2019
Deposited On:24 Jan 2020 12:22
Last Modified:29 Jul 2020 11:37
Publisher:American Academy of Sleep Medicine
ISSN:1550-9389
OA Status:Hybrid
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.5664/jcsm.7594
PubMed ID:30621834

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