We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions. Adduction of the vocal cords during inspiration, observed by laryngoscopy, confirmed laryngeal dystonia in all cases. This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications.
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http://dx.doi.org/10.1016/j.braindev.2005.03.004 | DOI Listing |
J Voice
February 2025
Department of Voice Medicine, Zhongshan Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China; Key Laboratory of Voice Medicine, Xiamen Science and Technology Bureau, Xiamen, China. Electronic address:
Objectives: This study aims to comprehensively analyze global research trends and developments in laryngeal dystonia (LD), providing valuable insights into the current state of LD research and highlighting emerging areas for future investigation, with particular focus on the role of novel technologies and interdisciplinary collaborations.
Methods: We conducted a bibliometric analysis of 497 studies on LD retrieved from PubMed, CINAHL, Embase, Scopus, and Web of Science, spanning from 1971 to 2023. Utilizing R, VOSviewer, and Citespace, we examined the characteristics and trends of the accumulated scientific literature, aiming to offer comprehensive insights and directions for future research.
J Speech Lang Hear Res
February 2025
Department of Communication Sciences and Disorders, The University of Utah, Salt Lake City.
Purpose: This pilot study systematically compared voice symptomatology across varied sensory trick conditions in those with laryngeal dystonia (LD), those with essential vocal tremor (EVT), and vocally normal controls (NCs). Sensory tricks are considered signature characteristics of dystonia and were hypothesized to reduce voice symptoms in those with LD compared to EVT and NC groups.
Method: Five participants from each group (LD, EVT, and NC) completed speech recordings under control and sensory trick conditions (delayed auditory feedback [DAF], vibrotactile stimulation [VTS], and nasoendoscopic recordings with and without topical anesthesia).
ArXiv
February 2025
Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although -related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease.
View Article and Find Full Text PDFJ Voice
January 2025
Department of Otolaryngology-Head and Neck Surgery, UCSF Voice and Swallowing Center, UCSF School of Medicine, San Francisco, CA. Electronic address:
Background: Laryngeal respiratory dystonia (LRD) is diagnosed based on clinical presentation, patient history, and physical examination. Key indicators include dyspnea, desynchronized breathing patterns, and laryngoscopic findings that reveal vocal fold adduction during inspiration. Treatment for LRD remains controversial and often yields limited effectiveness.
View Article and Find Full Text PDFCureus
November 2024
Psychiatry, Drexel University College of Medicine, West Reading, USA.
Acute dystonia is a neurological condition characterized by involuntary muscle contractions that can affect various parts of the body. It is commonly triggered by the use of antipsychotic medications, especially within the first few days after administration. Respiratory acute laryngeal dystonia, a particularly severe form of this condition and a very subtype of laryngeal dystonia, can lead to respiratory distress and airway obstruction if not promptly treated.
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