Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome

Corona‐Rivera, Jorge Román; Cormier‐Daire, Valérie; Dagoneau, Nathalie; Coello-Ramírez, P; López-Marure, Eloy; Romo‐Huerta, Carmen O.; Silva-Báez, Héctor; Aguirre-Salas, Liuba M.; Estrada-Solorio, María Inés

doi:10.1016/j.ejmg.2009.04.001

Cited by 13 publications

(16 citation statements)

References 16 publications

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“…Such episodes have also been encountered in Stüve-Wiedemann syndrome, a rare genetic disorder caused by mutations of the leukemia inhibitory factor receptor (LIFR) [15]. The two conditions are closely related and share many clinical features, including impaired thermoregulation and heat intolerance [16,17]. CLCF1 is a member of the interleukin-6 (IL-6) cytokine family, which, through their binding to the CNTFR/gp130/LIFRβ signal transducer, mediates STAT3 activation.…”

Section: Discussionmentioning

confidence: 99%

Cold-induced sweating syndrome: CISS1 and CISS2

Hahn

Waaler

Kvistad

et al. 2010

Journal of the Neurological Sciences

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Section: Discussionmentioning

confidence: 99%

Cold-induced sweating syndrome: CISS1 and CISS2

Hahn

Waaler

Kvistad

et al. 2010

Journal of the Neurological Sciences

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“…Recurrent spontaneous fractures are another skeletal manifestation that also impacts the patients' quality of life [Gaspar et al, 2008;Corona-Rivera et al, 2009;Jung et al, 2010]. Treatment with bisphosphonates, calcium, vitamin D, and/or human growth hormone may be indicated to control osteoporosis and prevent further fractures [Corona-Rivera et al, 2009].…”

Section: Muscular and Skeletal Findingsmentioning

confidence: 99%

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Bertola

Honjo

Baratela³

2016

Mol Syndromol

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Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.

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“…Most of the patients suffer from swallowing difficulties and resulting aspiration pneumonias which are a key contributor to death among these children [44]. …”

Section: Stuve–wiedemann Syndrome—locus 5p131mentioning

confidence: 99%

Genetic determinants of swallowing impairment, recovery and responsiveness to treatment

Raginis-Zborowska

Pendleton

Hamdy

2016

Curr Phys Med Rehabil Rep

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Purpose of reviewHere we review the latest literature and evidence in the field of genetics and determinants of swallowing and its treatments—specifically, this is a very recent concept in the field of oropharyngeal dysphagia, with only now an emerging research interest in the relationship between our genetic makeup and the effect this has on swallowing function and dysfunction. As such our review will look at preclinical, clinical and hypothesis generating research covering all aspects of the genetics of swallowing, giving new importance to the genotype-phenotype influences pertaining to dysphagia and its recovery.Recent findingsThere appear to be a number of candidate gene systems that interact with swallowing or its neurophysiology, which include brain-derived neurotrophic factor, apolipoprotein E and catechol-O-methyltransferase, that have been shown to impact on either swallowing function or the brain’s ability to respond to neurostimulation and induce plasticity. In addition, a number of genetic disorders, where dysphagia is a clinical phenomenon, have given us clues as to how multiple genes or the polygenetics of dysphagia might interact with our swallowing phenotype.SummaryThere is currently limited research in the field of genetic factors that influence (human) swallowing and oropharyngeal dysphagia, but this is an emerging science and one which, in the future, may herald a new era in precision medicine and better targeting of therapies for dysphagia based on an individual’s genetic makeup.

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Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome

Cited by 13 publications

References 16 publications

Cold-induced sweating syndrome: CISS1 and CISS2

Cold-induced sweating syndrome: CISS1 and CISS2

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Genetic determinants of swallowing impairment, recovery and responsiveness to treatment

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