Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
| Autor: | Maryse Magen, Susana Quijano-Roy, Domitille Gras, Mathilde Nizon, Corinne Magdelaine, Catherine Vanhulle, Fabienne Giuliano, Eric Bieth, Véronique Manel, Damien Haye, Pascal Cintas, Florence Petit, Klaus Dieterich, Agnès Viguier, S. Peudenier, Valérie Lauwers-Cances, Mélanie Fradin, Claude Cances, Isabelle Desguerre, Arnaud Isapof, Michèle Mathieu-Dramard, Michaël Jokic |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Artificial ventilation Pediatrics medicine.medical_specialty medicine.medical_treatment Diaphragmatic breathing Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine medicine Humans Respiratory system Genetics (clinical) Retrospective Studies Respiratory Distress Syndrome Newborn Palsy Respiratory distress business.industry Infant Newborn Infant Retrospective cohort study Spinal muscular atrophy Prognosis medicine.disease Respiration Artificial Hypotonia DNA-Binding Proteins Phenotype 030104 developmental biology Neurology Child Preschool Mutation Pediatrics Perinatology and Child Health Disease Progression Female France Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Transcription Factors |
| Zdroj: | Neuromuscular Disorders. 29:114-126 |
| ISSN: | 0960-8966 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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