ReviewIntensive care medicine2006
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
Review in Intensive care medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Exploring the relationship betweenFrontiers in neuroscience · 2023Pooled it
- Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-LinkedGenes · 2022Article
- Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).Cellular and molecular life sciences : CMLS · 2020Review
- Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.Molecular genetics & genomic medicine · 2020Article
- Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.Journal of cellular and molecular medicine · 2020Review
- Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency.Journal of pediatric intensive care · 2018Article
- Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.Journal of cellular and molecular medicine · 2015Review
- The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.Nucleic acids research · 2012Article
- Heterogeneity in spinal muscular atrophy with respiratory distress type 1.Journal of pediatric neurosciences · 2012Article
- Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.Neuromuscular disorders : NMD · 2011Article
- Year in review in Intensive Care Medicine, 2007. III. Ethics and legislation, health services research, pharmacology and toxicology, nutrition and paediatrics.Intensive care medicine · 2008Review
- Year in Review in Intensive Care Medicine, 2006. III. Circulation, ethics, cancer, outcome, education, nutrition, and pediatric and neonatal critical care.Intensive care medicine · 2007Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.
settingPediatric intensive care unit of tertiary care hospital. PATIENTS: We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin mu-binding protein 2 on chromosome 11q13.
conclusionsSMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.
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