Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review
Bibliographic record
Abstract
BACKGROUND: Congenital 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. METHODS: A 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. RESULTS: Seventy 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. CONCLUSION: Salbutamol 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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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.008 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".