Spinal muscular atrophy with respiratory ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Spinal muscular atrophy with respiratory distress type 1: a multicenter retrospective study
Author(s) :
Viguier, Agnes [Auteur]
Lauwers-Cances, Valerie [Auteur]
Cintas, Pascal [Auteur]
Manel, Veronique [Auteur]
Peudenier, Sylviane [Auteur]
Desguerre, Isabelle [Auteur]
Quijano-Roy, Susana [Auteur]
Vanhulle, Catherine [Auteur]
Fradin, Melanie [Auteur]
Isapof, Arnaud [Auteur]
Jokic, Michael [Auteur]
Mathieu-Dramard, Michele [Auteur]
Dieterich, Klaus [Auteur]
Petit, Florence [Auteur]
Magdelaine, Corinne [Auteur]
Giuliano, Fabienne [Auteur]
Gras, Domitille [Auteur]
Haye, Damien [Auteur]
Nizon, Mathilde [Auteur]
Magen, Maryse [Auteur]
Bieth, Eric [Auteur]
Cances, Claude [Auteur]
Lauwers-Cances, Valerie [Auteur]
Cintas, Pascal [Auteur]
Manel, Veronique [Auteur]
Peudenier, Sylviane [Auteur]
Desguerre, Isabelle [Auteur]
Quijano-Roy, Susana [Auteur]
Vanhulle, Catherine [Auteur]
Fradin, Melanie [Auteur]
Isapof, Arnaud [Auteur]
Jokic, Michael [Auteur]
Mathieu-Dramard, Michele [Auteur]
Dieterich, Klaus [Auteur]
Petit, Florence [Auteur]

Magdelaine, Corinne [Auteur]
Giuliano, Fabienne [Auteur]
Gras, Domitille [Auteur]
Haye, Damien [Auteur]
Nizon, Mathilde [Auteur]
Magen, Maryse [Auteur]
Bieth, Eric [Auteur]
Cances, Claude [Auteur]
Journal title :
Neuromuscular disorders . NMD
Abbreviated title :
Neuromuscul. Disord.
Publication date :
2018-10-31
ISSN :
1873-2364
Keyword(s) :
IGHMBP2
SMARD1
DSMA1
Multicenter
Prognosis
Heterogeneity
SMARD1
DSMA1
Multicenter
Prognosis
Heterogeneity
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and ...
Show more >Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective study to determine the prognosis of children with SMARD1 according to their phenotype. We recorded all known French pediatric cases with mutations identified on the immunoglobulin μ-binding protein 2 gene and the presence of respiratory symptoms. Thirty centers provided 22 observations. A diaphragmatic palsy was diagnosed 1.5 months (p = 0.02) after first respiratory symptoms, and hypotonia preceded areflexia by 4 months (p = 0.02). Early onset of symptoms leading to specialist consultation before the age of 3 months was associated with a significantly worse prognosis (p < 0.01). Among the 6 patients who were still alive, all were tracheostomized. Only one case survived beyond 2 years without artificial ventilation. The remaining patients died at a median age of 7 months. Our results may help pediatricians to provide medical information to parents and improve the decision-making process of setting up life support.Show less >
Show more >Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective study to determine the prognosis of children with SMARD1 according to their phenotype. We recorded all known French pediatric cases with mutations identified on the immunoglobulin μ-binding protein 2 gene and the presence of respiratory symptoms. Thirty centers provided 22 observations. A diaphragmatic palsy was diagnosed 1.5 months (p = 0.02) after first respiratory symptoms, and hypotonia preceded areflexia by 4 months (p = 0.02). Early onset of symptoms leading to specialist consultation before the age of 3 months was associated with a significantly worse prognosis (p < 0.01). Among the 6 patients who were still alive, all were tracheostomized. Only one case survived beyond 2 years without artificial ventilation. The remaining patients died at a median age of 7 months. Our results may help pediatricians to provide medical information to parents and improve the decision-making process of setting up life support.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Collections :
Submission date :
2021-09-02T07:01:59Z