Laryngeal dystonia: a comprehensive review of aetiology, clinical presentation, diagnosis, and treatment approaches

PURPOSE: Laryngeal dystonia (LD), also known as spasmodic dysphonia, is a rare voice production pathology manifested as focal muscle dystonia. The aim of this review is to synthesize current evidence on its aetiology, clinical presentation, diagnostic approach, and available treatment options, while identifying existing knowledge gaps to guide clinical decision-making and future research. METHODS: A structured literature review was conducted using peer-reviewed articles from medical databases (e.g., PubMed, Google Scholars). Inclusion criteria comprised studies published in English within the last 20 years, focusing on LD aetiology, clinical features, diagnosis, or treatment. Both observational studies and clinical trials were included. Exclusion criteria involved case reports with limited applicability, non-English publications, and studies lacking clear diagnostic criteria or therapeutic outcomes. RESULTS: Primarily an idiopathic disorder, there is evidence suggesting a neurogenic origin involving basal ganglia dysfunction in LD. Clinically, LD manifests as task-specific voice disturbances, affecting most commonly the adductor muscles (strained voice) or the abductor muscles (breathy voice). Diagnosis is mainly clinical, but supported by laryngoscopic findings and other multidisciplinary evaluation. The gold standard treatment remains botulinum toxin injection, providing symptomatic relief, while voice therapy and, in selected cases, surgical interventions offer adjunctive benefits. CONCLUSION: LD is a neurological voice disorder which requires a high index of suspicion for diagnosis. Individualized treatment, particularly with botulinum toxin, and early recognition, significantly improve patient outcomes. Further research is needed to clarify pathophysiological mechanisms and optimize long-term management strategies.