Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Neuromuscul Disord
; 29(2): 114-126, 2019 02.
Article
en En
| MEDLINE
| ID: mdl-30598237
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Dificultad Respiratoria del Recién Nacido
/
Factores de Transcripción
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Atrofia Muscular Espinal
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Proteínas de Unión al ADN
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2019
Tipo del documento:
Article