UNASSIGNED: Laryngeal dystonia is a task-specific focal dystonia of laryngeal muscles that impairs speech and voice production. At present, there is no cure for LD. The most common therapeutic option for patients with LD involves Botulinum neurotoxin injections.
UNASSIGNED: Provide empirical evidence that non-invasive vibro-tactile stimulation (VTS) of the skin over the voice box can provide symptom relief to those affected by LD.
UNASSIGNED: Single-group 11-week randomized controlled trial with a crossover between two dosages (20 min of VTS once or 3 times per week) self-administered in-home in two 4-week blocks. Acute effects of VTS on voice and speech were assessed in-lab at weeks 1, 6 and 11. Participants were randomized to receive either 40 Hz or 100 Hz VTS.
UNASSIGNED: Primary: smoothed cepstral peak prominence (CPPS) of the voice signal to quantify voice and speech abnormalities, and perceived speech effort (PSE) ranked by participants as a measure of voice effort (scale 1-10). Secondary: number of voice breaks during continuous speech, the Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) inventory as a measure of overall disease severity and the Voice Handicap Index 30-item self report.
UNASSIGNED: Thirty-nine people with a confirmed diagnosis of adductor-type LD (mean [SD] age, 60.3 [11.3] years; 18 women and 21 men) completed the study. A single application of VTS improved voice quality (median CPPS increase: 0.41 dB, 95% CI [0.20, 0.61]) and/or reduced voice effort (PSE) by at least 30% in up to 57% of participants across the three study visits. Effects lasted from less than 30 min to several days. There was no effect of dosage and no evidence that the acute therapeutic effects of VTS increased or decreased longitudinally over the 11-week study period. Both 100 and 40 Hz VTS induced measurable improvements in voice quality and speech effort. VTS induced an additional benefit to those receiving Botulinum toxin. Participants, not receiving Botulinum treatment also responded to VTS.
UNASSIGNED: This study provides the first systematic empirical evidence that the prolonged use of laryngeal VTS can induce repeatable acute improvements in voice quality and reductions of voice effort in LD.
UNASSIGNED: ClinicalTrials.gov ID: NCT03746509.

BACKGROUND: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.
OBJECTIVE: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.
METHODS: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.
RESULTS: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).
CONCLUSIONS: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.

OBJECTIVE: Laryngeal dystonia (LD) is a focal dystonia affecting laryngeal musculature with no known etiology or cure. The present study evaluated the sociodemographic and clinical features of patients diagnosed with LD.
METHODS: All patients diagnosed with LD at our University Hospital\'s Ear, Nose, and Throat Department between January 2017 and July 2023 were retrospectively analyzed. The study included 43 patients.
RESULTS: Out of the 43 patients, 19 (44%) were male. At the time of diagnosis, the mean age of the patients was 35.1 years (ranging from 17 to 65 years). The mean elapsed time between the first symptom onset and the first diagnosis was 49.2 months (min. 4 months, max. 240 months). Of the participants, 94% had adductor-type LD. None of the patients had a family history of LD. Of the patients, 9 (20%) experienced a life-altering event or trauma just before the onset of symptoms. All patients who consumed alcohol reported symptom relief with alcohol intake. A total of 67.6% of patients stated that their symptoms were triggered by stress. All of our patients received at least one Botulinum toxin injection, with an average of 2.75 dosages per patient.
CONCLUSIONS: The gender distribution was approximately equitable between males and females. There was a tendency for men to receive a diagnosis earlier than women following the manifestation of symptoms. A significant number of patients associate the emergence of their symptoms with a stressful event or traumatic experience. This study represents the initial investigation into the sociodemographic characteristics of patients within the Turkish population.

A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease\'s etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson\'s disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.

OBJECTIVE: This study aims to aggregate and analyze existing clinical evidence to compare the efficacy and adverse effects of unilateral or bilateral botulinum toxin injections for the treatment of adductor spasmodic dysphonia (ADSD).
METHODS: Reports from non-randomized controlled trials and cohort studies pertaining to the efficacy and adverse effects of unilateral and bilateral botulinum toxin injections for ADSD were identified and retrieved from four electronic databases from inception to July 2023. The meta-analysis employed fixed or random effects models to assess pooled relative risks (RR), mean differences (MDs), and standard mean differences (SMDs) with their corresponding 95% confidence intervals (CIs).
RESULTS: We included two non-randomized controlled trials and seven cohort studies comprising 854 total patients. Meta-analysis of the included studies showed that bilateral botulinum toxin injections associated with a longer duration of vocal improvement (MD =  - 2.89, 95% CI - 3.13 to - 2.65, I2 = 0%, P < 0.00001). However, bilateral botulinum toxin injections associated with an increase in adverse effects, including a longer duration of breathy voice quality (SMD =  - 0.51, 95% CI - 0.79 to - 0.22, I2 = 35%, P = 0.0005) and a higher occurrence of swallowing difficulties (RR = 0.46, 95% CI 0.35 to 0.11, I2 = 0%, P < 0.00001).
CONCLUSIONS: Bilateral botulinum toxin injections for ADSD showed a longer duration of vocal improvement, a longer breathy voice duration and a higher dysphagia occurrence and duration than unilateral injections.

UNASSIGNED: This study aims to analyze the impact of age and sex on botulinum neurotoxin (BoNT-A) dosing and outcomes in adductor spasmodic dysphonia (AdSD).
UNASSIGNED: A database review of all spasmodic dysphonia patients treated with BoNT from 1989 to 2018 at the Mayo Clinic in Arizona was performed. Only patients who had received ≥4 injections of BoNT-A for AdSD were included. Patients were divided into two cohorts to analyze age, with an age of first treatment cutoff of 60 years. Patients were divided into male and female cohorts to analyze sex.
UNASSIGNED: The final analysis included 398 patients. The mean dose of BoNT-A per treatment was significantly higher in the younger cohort (4.4 vs. 3.9 units, p = 0.048). The mean maximal benefit was similar (72% vs. 70%, p = 0.48); however, the mean length of benefit was significantly shorter in younger patients (3.0 vs. 3.6 months, p < 0.01). The mean BoNT-A dose was significantly higher in the female cohort (4.2 vs. 3.6 units, p = 0.02). The mean maximal benefit was similar (69% vs. 75%, p = 0.58), as was the mean length of benefit (3.2 vs. 3.5 months, p = 0.11).
UNASSIGNED: This study suggests that age and sex influence BoNT-A dosing and outcomes in AdSD.

暂无摘要。

The cortical silent period (cSP) is a period of electrical silence following a motor-evoked potential (MEP) in the electromyographic signal recorded from a muscle. The MEP can be elicited by transcranial magnetic stimulation (TMS) over the primary motor cortex site corresponding with the muscle. The cSP reflects the intracortical inhibitory process mediated by GABAA and GABAB receptors. The study aimed to investigate the cSP in the cricothyroid (CT) muscle after applying e-field-navigated TMS over the laryngeal motor cortex (LMC) in healthy subjects. Then, a cSP as a neurophysiologic feature for laryngeal dystonia was observed. We applied a single-pulse e-field-navigated TMS to the LMC over both hemispheres with hook-wire electrodes positioned in the CT muscle in nineteen healthy participants, which triggered the elicitation of contralateral and ipsilateral corticobulbar MEPs. The subjects were engaged in a vocalization task, and then we assessed the following metrics: LMC intensity, peak-to-peak MEP amplitude in the CT muscle, and cSP duration. The results showed that the cSP duration from the contralateral CT muscle was distributed from 40 ms to 60.83 ms, and from the ipsilateral CT muscle, from 40 ms to 65.58 ms. Also, no significant difference was found between the contralateral and ipsilateral cSP duration (t(30) = 0.85, p = 0.40), MEP amplitude in the CT muscle (t(30) = 0.91, p = 0.36), and LMC intensity (t(30) = 1.20, p = 0.23). To conclude, the applied research protocol showed the feasibility of recording LMC corticobulbar MEPs and observing the cSP during vocalization in healthy participants. Furthermore, an understanding of neurophysiologic cSP features can be used to study the pathophysiology of neurological disorders that affect laryngeal muscles, such as laryngeal dystonia.

Adductor spasmodic dysphonia is a type of adult-onset focal dystonia characterized by involuntary spasms of laryngeal muscles. This paper applied machine learning techniques for the severity assessment of spasmodic dysphonia. To this aim, 7 perceptual indices and 48 acoustical parameters were estimated from the Italian word /a\'jwɔle/ emitted by 28 female patients, manually segmented from a standardized sentence and used as features in two classification experiments. Subjects were divided into three severity classes (mild, moderate, severe) on the basis of the G (grade) score of the GRB scale. The first aim was that of finding relationships between perceptual and objective measures with the Local Interpretable Model-Agnostic Explanations method. Then, the development of a diagnostic tool for adductor spasmodic dysphonia severity assessment was investigated. Reliable relationships between G; R (Roughness); B (Breathiness); Spasmodicity; and the acoustical parameters: voiced percentage, F2 median, and F1 median were found. After data scaling, Bayesian hyperparameter optimization, and leave-one-out cross-validation, a k-nearest neighbors model provided 89% accuracy in distinguishing patients among the three severity classes. The proposed methods highlighted the best acoustical parameters that could be used jointly with GRB indices to support the perceptual evaluation of spasmodic dysphonia and provide a tool to help severity assessment of spasmodic dysphonia.

OBJECTIVE: The anterior, percutaneous Botulinum neurotoxin (BoNT) injection in the lateral cricoarytenoid muscle (LCA) guided by laryngeal electromyography (LEMG) is considered the golden standard treatment for several neurolaryngological disorders. The study presented in this article aims to assess the effectiveness of an alternative approach by which the injection is performed laterally under ultrasound monitoring.
METHODS: Anatomical dissection study in human cadavers.
METHODS: Academic health care center.
METHODS: Ultrasound-guided bilateral dye (0.1 mL of dye solution containing cold-curing polymers, latex, acrylates, acrylic esters, alcohol, and green color) injection in the LCA was performed by means of 24G needles and 1 mL syringes using the lateral approach. The dye location and distribution were assessed by anatomic dissection, performed immediately after the injection.
RESULTS: In 9/10 specimens, the dye was exclusively detectable in the LCA. In 1/10 case (left side), the dye could not be delivered in the LCA because of unintended penetration of the thyroid cartilage by the needle during injection. Anatomic dissection confirmed that the dye spread neither into the thyroarytenoid (TA) nor the cricothyroid muscle (CT).
CONCLUSIONS: The anatomic dissection following lateral dye injection in the LCA under ultrasound guide confirmed the precision of this approach in delivery a substance exclusively in a pre-determined target. This feature makes this method an interesting addition or alternative to the standard LEMG-guided BoNT injection at least when the LCA is its target.
METHODS: III.