SynthesisBMC neurology2025
Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.
Synthesis in BMC neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
- Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.CNS neuroscience & therapeutics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission with few effective treatments. Salbutamol, a β2-adrenergic agonist, has shown anecdotal benefit, yet no comprehensive assessment of its clinical effectiveness across genetic subtypes exists. This systematic review aimed to evaluate outcomes associated with Salbutamol therapy in genetically confirmed CMS.
methodsA systematic literature search was conducted in PubMed and Scopus through May 19, 2025, identifying studies involving Salbutamol treatment in patients with genetically confirmed congenital myasthenic syndromes. Data were extracted on demographics, genetic mutation, symptom domains, functional outcomes (including ambulation), and adverse effects. Descriptive statistics summarized clinical improvement, and subgroup analyses examined gene-specific responses.
resultsSeventy studies including 236 patients were analyzed. Overall, 93.6% of patients experienced partial or full clinical improvement following Salbutamol treatment. Improvement among symptomatic patients exceeded 95% for respiratory compromise and generalized muscle weakness and was > 90% for fatigue/exercise intolerance; bulbar, facial, and hypotonia/floppiness symptoms also improved frequently, whereas ocular involvement and motor/developmental delay were less responsive. Ambulation was regained in 82% of previously wheelchair-dependent patients. Responses varied by genotype: improvement reached 100% in CHRNE, GMPPB, COL13A1, PLEC, and several rare mutations, while DOK7 and COLQ showed high but slightly lower rates (97% and 93%, respectively); poorer responses were observed in DPAGT1 and CHAT. Exploratory analyses suggested that respiratory and generalized weakness improved more often than ocular and developmental symptoms, and that DOK7 and COLQ genotypes may have higher odds of response. Reported side effects were rare and mild.
conclusionSalbutamol appears to be an effective and well-tolerated therapeutic option for a broad range of CMS genotypes, particularly for generalized and respiratory muscle weakness, and can restore ambulation in a substantial proportion of severely affected patients. Given the reliance on heterogeneous case-based data and exploratory analyses, prospective studies with standardized, genotype-stratified outcome measures are warranted.
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