Analyze demographic data collected over a 25-year experience of 718 patients with spasmodic dysphonia (SD) who have been treated with botulinum toxin-A (BoNT-A) and compare our data with previously published studies.
Seven hundred eighteen patients with SD were treated with 6621 BoNT-A injections at Mayo Clinic Arizona between 1989 and 2014. All patients were treated by the same physician team. Background demographic data for each patient were recorded.
Of 718 patients, 557 patients were female (77.6%). Six hundred sixty of 718 (91.8%) patients had adductor SD (AdSD), and 58 of 718 (8.1%) patients had abductor SD (AbSD). Average age of onset was 51 years. Of 718 patients, 378 (52.6%) had vocal tremor (VT); VT was present in 54.4% of AdSD patients and 32.1% of AbSD patients. Thirty-seven of 718 (5.2%) patients had other dystonias, including cervical dystonia (2.3%), blepharospasm (1.4%), limb dystonia (1.1%), and oromandibular dystonia (0.3%). A positive family history of SD was present in only 6 of 718 patients (0.8%) and of other dystonias in 11 of 718 patients (1.5%).
Spasmodic dysphonia is a chronic and potentially disabling focal laryngeal dystonia. The Mayo Clinic Arizona SD experience compares to prior reports and reveals a female preponderance, onset in middle age, infrequent hereditary pattern, high co-occurrence of VT, and low co-occurrence of other dystonias.
Tsuji DH, Takahashi MT, Imamura R, Hachiya A, Sennes LU
J. Voice. 2012;26(5):666.e7-12
Adductor spasmodic dysphonia (ADSO) is a focal laryngeal dystonia, which compromises greatly the quality of life of the patients involved. It is a severe vocal disorder characterized by spasms of laryngeal muscles during speech, producing phonatory breaks, forced, strained and strangled voice. Its symptoms result from involuntary and intermittent contractions of thyroarytenoid muscle during speech, which causes vocal fold to strain, pressing each vocal fold against the other and increasing glottic resistance. Botulinum toxin injection remains the gold-standard treatment. However, as injections should be repeated periodically leading to voice quality instability, a more definitive procedure would be desirable. In this pilot study we report the long-term vocal quality results of endoscopic laser thyroarytenoid myoneurectomy.
Prospective study.SMETHODS: Surgery was performed in 15 patients (11 females and four males), aged between 29 and 73 years, diagnosed with ADSD. Voice Handicap Index (VHI) was obtained before and after surgery (median 31 months postoperatively).
A significant improvement in VHI was observed after surgery, as compared with baseline values (P0.O01). The median and interquartile range for preoperative VHI was 99 and 13, respectively and 24 and 42, for postoperative VHI. Subjective improvement of voice as assessed by the patients showed median improvement of 80%.
Because long-term follow-up showed significant ¡mprovement of voice quality, this innovative surgical technique seems a satisfactory alternative treatment of ADSD patients who seek a definite improvement of their condition.
Treatment for spasmodic dysphonia: limitations of current approaches Ludlow CL
Curr Opin Otolaryngol Head Neck Surg. 2009;17(3):160-5.
Although botulinum toxin injection is the gold standard for treatment of spasmodic dysphonia, surgical approaches aimed at providing long-term symptom control have been advancing over recent years.
When surgical approaches provide greater long-term benefits to symptom control, they also increase the initial period of side effects of breathiness and swallowing difficulties. Recent analyses of quality-of-life questionnaires in patients undergoing regular injections of botulinum toxin demonstrate that a large proportion of patients have limited relief for relatively short periods due to early breathiness and loss-of-benefit before reinjection.
Most medical and surgical approaches to the treatment of spasmodic dysphonia have been aimed at denervation of the laryngeal muscles to block symptom expression in the voice, and have both adverse effects as well as treatment benefits. Research is needed to identify the central neuropathophysiology responsible for the laryngeal muscle spasms in order target treatment towards the central neurological abnormality responsible for producing symptoms.
Kristina Simonyan and Christy L. Ludlow
Laryngeal and Speech Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bathesda, MD 20892, USA
Address correspondence to Kristina Simonyan, Department of Neurology, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1137, New York, NY 10029, USA. Email: firstname.lastname@example.org.
Spasmodic dysphonia (SD) is a task-specific focal dystonia of unknown pathophysiology, characterized by involuntary spasms in the laryngeal muscles during speaking. Our aim was to identify symptom-specific functional brain activation abnormalities in adductor spasmodic dysphonia (ADSD) and abductor spasmodic dysphonia (ABSD). Both SD groups showed increased activation extent in the primary sensorimotor cortex, insula, and superior temporal gyrus during symptomatic and asymptomatic tasks and decreased activation extent in the basal ganglia, thalamus, and cerebellum during asymptomatic tasks. Increased activation intensity in SD patients was found only in the primary somatosensory cortex during symptomatic voice production, which showed a tendency for correlation with ADSD symptoms. Both SD groups had lower correlation of activation intensities between the primary motor and sensory cortices and additional correlations between the basal ganglia, thalamus, and cerebellum during symptomatic and asymptomatic tasks. Compared with ADSD patients, ABSD patients had larger activation extent in the primary sensorimotor cortex and ventral thalamus during symptomatic task and in the inferior temporal cortex and cerebellum during symptomatic and asymptomatic voice production. The primary somatosensory cortex shows consistent abnormalities in activation extent, intensity, correlation with other brain regions, and symptom severity in SD patients and, therefore, may be involved in the pathophysiology of SD.
Keywords: laryngeal dystonia, neuroimaging, voice production
*Arya W. Namin, †Kara M. Christopher, and ‡John F. Eisenbeis, *Dallas, Texas, and †‡Saint Louis, Missouri
Objectives. The study aims to (1) identify the botulinum toxin (BTX) dosing trend in a cohort of patients who received at least 20 injections for the treatment of adductor spasmodic dysphonia (ADSD), (2) describe two distinct BTX dosing trends in treating ADSD (a “classic” dosing trend that initially decreases before stabilizing, and a “fluctuating” dosing trend), and (3) determine if patients with the “classic” dosing trend differed in age or in dosing intervals from those with the “fluctuating” dosing trend.
This is a retrospective case series.
Of 149 patients who received a total of 2484 BTX injections for the treatment of spasmodic dysphonia in 1993–2013, 49 patients received at least 20 injections. The BTX dose and the interval between doses were recorded. The mean dose of injections 1–20 was determined. The age at initial injection, initial dose, and interval in days between treatments were compared for the “fluctuating” and “classic” groups.
The cohort exhibits a significant decrease in dose during the first 10–15 injections. The “fluctuating” group had a significantly shorter interval between injections (mean interval = 97.09 days, SD = 29.41; mean interval = 136.90 days, SD = 43.76, P = 0.002). The mean age at initial dose was not significantly different between the “classic” and “fluctuating” groups.
The average BTX dose of patients with ADSD who receive long-term injections significantly decreases during the initial 10–15 injections before stabilizing. Patients who exhibit the “fluctuating” dosing pattern have a significantly shorter interval between injections than those with the “classic” dosing pattern.
Asanori Kiyuna, Norimoto Kise, Munehisa Hiratsuka, Shunsuke Kondo, Takayuki Uehara, Hiroyuki Maeda, Akira Ganaha, and Mikio Suzuki, Nishihara-cho, Okinawa, Japan
Objectives. Spasmodic dysphonia (SD) is considered a focal dystonia. However, the detailed pathophysiology of SD remains unclear, despite the detection of abnormal activity in several brain regions. The aim of this study was to clarify the pathophysiological background of SD.
This is a case-control study.
Both task-related brain activity measured by functional magnetic resonance imaging by reading the fivedigit numbers and resting-state functional connectivity (FC) measured by 150 T2-weighted echo planar images acquired without any task were investigated in 12 patients with adductor SD and in 16 healthy controls.
The patients with SD showed significantly higher task-related brain activation in the left middle temporal gyrus, left thalamus, bilateral primary motor area, bilateral premotor area, bilateral cerebellum, bilateral somatosensory area, right insula, and right putamen compared with the controls. Region of interest voxel FC analysis revealed many FC changes within the cerebellum-basal ganglia-thalamus-cortex loop in the patients with SD. Of the significant connectivity changes between the patients with SD and the controls, the FC between the left thalamus and the left caudate nucleus was significantly correlated with clinical parameters in SD.
The higher task-related brain activity in the insula and cerebellum was consistent with previous neuroimaging studies, suggesting that these areas are one of the unique characteristics of phonation-induced brain activity in SD. Based on FC analysis and their significant correlations with clinical parameters, the basal ganglia network plays na important role in the pathogenesis of SD.
KeyWords: Spasmodic dysphonia–Resting-state functional connectivity–Disease severity–Basal ganglia network–Focal dystonia.
*Laura J. White, *Edie R. Hapner, *Adam M. Klein, *John M. Delgaudio, †John J. Hanfelt, ‡,§H. A. Jinnah, and *Michael M. Johns, III, *yzxAtlanta, Georgia
Introduction. There is evidence supporting an association between depression and anxiety in patients with chronic disease. Spasmodic dysphonia (SD) is a chronic, incurable, and disabling voice disorder. Reported rates of depression and anxiety in SD range from 7.1% to 72%, with a maximum number of 18 patients. The goal of this study was to define the coprevalence of depression and anxiety with SD.
A single-institution case-control study was performed from May to July 2010. Consecutive patients with SD and benign voice disorders were enrolled prospectively. On enrollment, patients were asked to fill out a questionnaire that reviewed the duration of the voice disorder and personal history of anxiety and depression, including current and lifetime diagnosis.
One hundred forty-six controls with benign voice disorders and 128 patients with SD were enrolled. Patients with SD were no more likely to be diagnosed with depression or anxiety than those of the control group (odds ratio [OR] ¼ 0.985, 95% confidence interval [CI] ¼ 0.59–1.63; and OR ¼ 1.314; 95% CI ¼ 0.75–2.3, respectively). Additionally, duration of disease was a risk factor for depression in both the SD group and the control group, and the association was not significantly different between groups.
Patients with SD were no more likely to have depression or anxiety than those with other voice disorders. It is important for otolaryngologists to be aware of the increased rates of depression in patients diagnosed with chronic diseases, including voice disorders, and to refer to a psychiatrist when appropriate.
Key Words: Anxiety–Depression–Spasmodic dysphonia.
*Francis X. Creighton, †Edie Hapner, †Adam Klein, ‡Ami Rosen, ‡Hyder A. Jinnah, and †Michael M. Johns, *Boston, Massachusetts, yzAtlanta, Georgia
Purpose. Spasmodic dysphonia (SD) is a rare but often debilitating disease. Due to lack of awareness among practitioners and lack of well-defined diagnostic criteria, it can be difficult for patients with SD to receive a diagnosis and subsequent treatment. There is currently no literature documenting the efficacy of the medical community in recognizing and diagnosing this disorder.We aimed to quantify the patients’ experienceswith obtaining a diagnosis of SD.
One hundred seven consecutive patients with SD completed questionnaires about their experiences with SD. Patients were recruited either during outpatient laryngology visits or during participation in a National Institutes of Health funded study investigating SD.
It took patients an average of 4.43 years (53.21 months) to be diagnosed with SD after first going to a physician with vocal symptoms. Patients had to see an average of 3.95 physicians to receive a diagnosis of SD. Patients (31.4%) had been prescribed medications other than botulinum toxin to treat their symptoms. Patients (30%) attempted alternative therapies for treatment of SD, such as chiropractor or dietary modification.
Despite advances in diagnostic modalities in medicine, the diagnosis of SD still remains elusive. Objective criteria for the diagnosis of SD and increased clinician education are warranted to address this diagnostic delay.
Key Words: Larynx–Voice–Spasmodic dysphonia–Diagnostic delay.
Muscle tension dysphonia (MTD) can mimic the voice features of adductor spasmodic dysphonia (ADSD) leading to diagnostic confusion. Researchers have begun to compare characteristics of MTD and ADSD to determine whether there are markers which reliably distinguish the two disorders and lead to improved differential diagnosis.
Differences between MTD and ADSD have been identified during fiberoptic laryngoscopy, phonatory airflow measurement, acoustic analysis, and variable sign expression based upon phonatory task. In general, evidence of task-dependent sign expression and intraword phonatory breaks should raise suspicion of ADSD over MTD. However, on the basis of conventional standards of diagnostic precision, no single diagnostic test currently exists that reliably distinguishes the two disorders.
Although perceptual voice evaluation remains the standard for differential diagnosis of ADSD and MTD, knowledge of factors that influence the severity of sign expression in ADSD is important to differential diagnosis. During clinical assessment, voice clinicians who use generic stimulus materials that do not control for specific phonetic environments or voice tasks may miss critical phenomenological features of ADSD.
Keywords adductor spasmodic dysphonia, differential diagnosis, muscle tension dysphonia, task dependency
*Anna Rumbach, *Patrick Aiken, and †Daniel Novakovic, *Brisbane and †Sydney, Australia
Purpose. The aim of this review was to systematically identify all available studies reporting outcomes measures to assess treatment outcomes for people with spasmodic dysphonia (SD).
Full-text journal articles were identified through searches of PubMed, Embase, CINAHL, and Cochrane databases and hand searching of journals.
A total of 4,714 articles were retrieved from searching databases; 1,165 were duplicates. Titles and abstracts of 3,549 were screened, with 171 being selected for full-text review. During full-text review, 101 articles were deemed suitable for inclusion. An additional 24 articles were identified as suitable for inclusion through a hand search of reference lists. Data were extracted from 125 studies. A total of 220 outcome measures were identified. Considered in reference to theWorld Health Organization International Classification of Functioning, Disability and Health (ICF), the majority of outcomes were measured at a Body Function level (n = 212, 96%). Outcomes that explored communication and participation in everyday life and attitudes toward communication (ie, activity and participation domains) were infrequent (n = 8; 4%). Quality of life, a construct not measured within the ICF, was also captured by four outcome measures. No instruments evaluating communication partners’ perspectives or burden/disability were identified.
The outcome measures used in SD treatment studies are many and varied. The outcome measures identified predominately measure constructs within the Body Functions component of the ICF. In order to facilitate data synthesis across trials, the development of a core outcome set is recommended.
KeyWords: Spasmodic dysphonia–Laryngeal dystonia–Treatment outcomes–Outcome measures–Systematic review.
*Lucy L. Shi, †C. Blake Simpson, ‡Edie R. Hapner, §Hyder A. Jinnah, and ‡Michael M. Johns III, *‡§Atlanta, Georgia, and †San Antonio, Texas
Objective. The aim of this study was to describe the presentation of pharyngeal dystonia (PD), which can occur as a focal or segmental dystonia with a primarily pharyngeal involvement for the discussion of treatment methods for controlling consequent symptoms. PD is specific to speech-related tasks.
A retrospective medical record review of four patients with PD was performed.
All patients were initially misdiagnosed with adductor spasmodic dysphonia and failed standard treatment with botulinum toxin type A (BTX). On laryngoscopy, the patients were discovered to have segmental or focal dystonia primarily affecting the pharyngeal musculature contributing to their vocal manifestations. A novel treatment regimen was designed, which involved directing BTX injections into the muscles involved in spasmodic valving at the oropharyngeal level. After titrating to an optimal dose, all patients showed improvement in their voice and speech with only mild dysphagia. These patients have maintained favorable results with repeat injections at 6- to 12-week intervals.
PD, or dystonia with predominant pharyngeal involvement, is a rare entity with vocal manifestations that are not well described. It can be easily mistaken for spasmodic dysphonia. PD is specific to speech-related tasks. A novel method of BTX injections into the involved muscles results in a significant improvement in voice without significant dysphagia.
Key Words: Dystonia–Dysphonia–Segmental dystonia–Speech-language disorder–Spasmodic dysphonia.
Renata Whurra and Marjorie Lorchb
The recent literature on spasmodic dysphonia is reviewed with regard to pathogenesis, differential diagnosis, treatment options, audits, and current methods of management.
Advances in technology have enabled clinicians to better understand the connection between brain and laryngeal function and dysfunction. Refinements in imaging and genetic investigation techniques have led to advances in the understanding of the underlying mechanism of this neurolaryngeal disorder. Development of diagnostic assessment tools and measures of quality of life hold the potential to improve treatment and care.
Fifty articles published between 2014 and 2015 were selected for this review. The sources were drawn from several clinical specialties: 54% come under the scope of laryngology, 32% from neurology, and 14% from other areas. It remains poorly understood, misdiagnosed, and underdiagnosed. Its identification, diagnosis, treatment selection, and coordination of care require an expert specialist multidisciplinary team. More training is required to help people who have this chronic and psychosocially disabling voice disorder, which impinges on all aspects of their lives. Spasmodic dysphonia is now classified as a ‘rare’ disease in the United States. This designation will assist in international standards of diagnosis, assessment, treatment, and management.
botulinum toxin, laryngeal dystonia, quality of life, spasmodic dysphonia
Christy L. Ludlow
Department of Communication Sciences and Disorders, James Madison University, Harrisonburg, Virginia 22807
Spasmodic dysphonia (SD) is a rare neurological disorder that emerges in middle age, is usually sporadic, and affects intrinsic laryngeal muscle control only during speech. Spasmodic bursts in particular laryngeal muscles disrupt voluntary control during vowel sounds in adductor SD and interfere with voice onset after voiceless consonants in abductor SD. Little is known about its origins; it is classified as a focal dystonia secondary to an unknown neurobiological mechanism that produces a chronic abnormality of laryngeal motor neuron regulation during speech. It develops primarily in females and does not interfere with breathing, crying, laughter, and shouting. Recent postmortem studies have implicated the accumulation of clusters in the parenchyma and perivascular regions with inflammatory changes in the brainstem in one to two cases. A few cases with single mutations in THAP1, a gene involved in transcription regulation, suggest that a weak genetic predisposition may contribute to mechanisms causing a nonprogressive abnormality in laryngeal motor neuron control for speech but not for vocal emotional expression. Research is needed to address the basic cellular and proteomic mechanisms that produce this disorder to provide intervention that could target the pathogenesis of the disorder rather than only providing temporary symptom relief.
*,†Masaki Nomoto, *,zRyoji Tokashiki, *Hiroyuki Hiramatsu, *Ujimoto Konomi, *Rei Motohashi, *Eriko Sakurai, *Fumimasa Toyomura, *Yuri Ueda, zShun Inoue, *Kiyoaki Tsukahara, and *Mamoru Suzuki, *yzTokyo, Japan
Objective. Surgical treatments for adductor spasmodic dysphonia include bilateral thyroarytenoid muscle myectomy (TAM) and type II thyroplasty (TPII), both of which are commonly performed. The present study aimed to compare the effects of TAM and TPII.
Subjects were 30 and 35 patients who underwent TAMand TPII, between March 2008 and November 2012. Voice quality was evaluated based on ‘‘voice handicap index 10 (VHI10)’’ and auditory impressions before and 6 months after surgery using five parameters: ‘‘strangulation,’’ ‘‘interruption,’’ ‘‘tremor,’’ ‘‘grade,’’ and ‘‘breathiness.’’
Comparison of the two procedures revealed significant improvements in VHI10, strangulation, interruption, and tremor, and a significant decline in breathiness after surgery. In particular, VHI10 was improved by more than six points in 90% of patients with TAM, and 96% with TPII. No significant difference was observed between the severities of two procedures preoperatively. Comparison of each postoperative score between the two procedures revealed that TAM significantly improved strangulation, interruption, and tremor, and significantly worsened breathiness, with no significant difference in VHI10. Scatter plots (x: preoperative scores; y: postoperative scores) and regression lines of evaluation items demonstrated that TAM is more effective than TPII in severe cases.
Compared with TPII, TAM tends to improve strangulation, interruption, and tremor; however, it tends to worsen breathiness postoperatively. Postoperative VHI10 scores did not differ significantly between the two procedures. Given favorable improvement rates, both surgical procedures were considered effective.
Key Words: Spasmodic dysphonia–Thyroarytenoid muscle myectomy–Type II thyroplasty–Surgery.