ArticleCurrent research in neurobiology2026
A clinical prediction rule for myotonia permanens associated with the
Article in Current research in neurobiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Myotonia permanens (MP), a life-threatening condition, is prevalent in Chile, and is frequently associated with the Methods: This cross-sectional study was conducted at five Chilean hospitals and included healthy controls and patients with non-dystrophic myotonia (NDM). Participants were classified as controls, MP-p.Gly1306Glu, or non-permanens myotonia (NPM). Diagnosis was confirmed by Results: A total of 19 controls and 17 patients with NDM (MP-p.Gly1306Glu/NPM = 8/9; mean age: 36 years) were included. Four predictors of MP-p.Gly1306Glu were identified: eyelid myotonia before age 2 (predictive value [PV] = 100%), myotonic discharges ≥28/30 s (PV = 95%), laryngospasm before age 2 (PV = 94%), and generalized myotonia before age 5 (PV = 88%). If all four predictors are present, MP-p.Gly1306Glu is highly probable and Conclusion: This CPR may facilitate early diagnosis of MP-p.Gly1306Glu and improve clinical outcomes, especially in Chile, and possibly other resource-limited settings, by guiding timely genetic confirmation and management. These predictors may support diagnostic criteria for MP/NPM, and guide future clinical trial design.
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