ArticleMultidisciplinary respiratory medicine2024
Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report.
Article in Multidisciplinary respiratory medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionDOK7 gene deficiency is a neuromuscular disease with an alteration in post-synaptic neuromuscular junction, leading to progressive respiratory impairment. Although, the therapy is not standardized, adrenergic agonists are suggested as first-line treatment. Case presentation: Our patient had an ambiguous late childhood-onset and had a generalized muscle weakness free of respiratory symptoms during the early phase of the disease. Subsequently, when the respiratory muscle and the diaphragm involvement was impaired, a substantial loss of respiratory function with hypopneas and severe desaturation was detected. It was noteworthy the striking respiratory beneficial impact of oral salbutamol in the resolution of symptoms and functional impairments, leading to a remarkable respiratory improvement and a better quality of life. Conclusion: Oral salbutamol treatment combined to a timely clinical recognition led to an outstanding respiratory improvement.
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Registered trials
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