ABSTRACT
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 (pâ¯=â¯0.02) after first respiratory symptoms, and hypotonia preceded areflexia by 4 months (pâ¯=â¯0.02). Early onset of symptoms leading to specialist consultation before the age of 3 months was associated with a significantly worse prognosis (pâ¯<â¯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.
Subject(s)
DNA-Binding Proteins/genetics , Muscular Atrophy, Spinal/diagnosis , Respiratory Distress Syndrome, Newborn/diagnosis , Transcription Factors/genetics , Child, Preschool , Disease Progression , Female , France , Humans , Infant , Infant, Newborn , Male , Muscular Atrophy, Spinal/genetics , Mutation , Phenotype , Prognosis , Respiration, Artificial , Respiratory Distress Syndrome, Newborn/genetics , Retrospective StudiesABSTRACT
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