The multidisciplinary team at the Neuromuscular Unit of Hospital Sant Joan de Déu in Barcelona, specialized in the diagnosis and care of children with neuromuscular disorders, has published a study based on one of the largest single-center cohorts of individuals with neuromuscular arthrogryposis. By integrating detailed clinical assessments with comprehensive genetic testing, the study aims to improve diagnostic accuracy, inform prognosis, and support clinicians, researchers, and families in understanding the underlying causes and clinical implications of these complex conditions.