Anti-Ri paraneoplastic neurological syndrome presenting with bilateral cranial nerve VI palsy and jaw dystonia-a distinctive syndrome within the anti-Ri spectrum? : Case report and literature review.

OBJECTIVE: Paraneoplastic neurological syndromes (PNS) are rare disorders associated with various onconeuronal antibodies. Anti-Ri antibodies (ANNA-2) are typically found in patients with opsoclonus myoclonus syndrome (OMS) and ataxia. CASE REPORT: We present an anti-Ri antibody-positive 77-year-old woman with subacute progressive bilateral cranial nerve VI palsy, gait disturbance and jaw dystonia. MRI of the brain showed hyperintense signals on T2 bitemporal without contrast enhancement. Cerebrospinal fluid (CSF) examination exhibited mild pleocytosis of 13 cells/µl and positive oligoclonal bands. CSF was overall inconspicuous for a malignant or inflammatory etiology. Immunofluorescence analysis revealed anti-Ri antibodies in both serum and CSF. Subsequent diagnostic work up resulted in a newly diagnosed ductal carcinoma of the right breast. PNS in this case partially responded to the anti-tumor therapy. CONCLUSION: This case shows similarities with recently published anti-Ri syndromes, which might form a distinct triad within the anti-Ri spectrum.

American Cancer Society Head and Neck Cancer Survivorship Care Guideline.

Answer questions and earn CME/CNE The American Cancer Society Head and Neck Cancer Survivorship Care Guideline was developed to assist primary care clinicians and other health practitioners with the care of head and neck cancer survivors, including monitoring for recurrence, screening for second primary cancers, assessment and management of long-term and late effects, health promotion, and care coordination. A systematic review of the literature was conducted using PubMed through April 2015, and a multidisciplinary expert workgroup with expertise in primary care, dentistry, surgical oncology, medical oncology, radiation oncology, clinical psychology, speech-language pathology, physical medicine and rehabilitation, the patient perspective, and nursing was assembled. While the guideline is based on a systematic review of the current literature, most evidence is not sufficient to warrant a strong recommendation. Therefore, recommendations should be viewed as consensus-based management strategies for assisting patients with physical and psychosocial effects of head and neck cancer and its treatment. CA Cancer J Clin 2016;66:203-239. © 2016 American Cancer Society.

[Therapeutic strategies for oromandibular dystonia]. / Behandlungsstrategien bei oromandibulärer Dystonie.

Oromandibular dystonia is characterized by tonic or clonic involuntary spasms of the masticatory, lingual and / or muscles in the stomatognathic system. It is often misdiagnosed as craniomandibular dysfunction or psychiatric disease. According to clinical features, the oromandibular dystonia is classified into 6 subtypes (jaw closing-, jaw opening-, tongue-, jaw deviation-, jaw protrusion-, and lip dystonia). There are several treatment methods like botulinum toxin injection, muscle afferent block (injection of lidocaine and alcohol into the masticatory or tongue muscles for blocking muscle afferents from muscle spindle), occlusal splint, and oral surgery (coronoidotomy). Most of patients can be treated successfully according to subtype by combination of these treatments. Special treatment recommendations for each subtype were described in this focus article. Accurate diagnosis and treatment of oral dystonia requires comprehensive knowledge and skills of both oral and maxillofacial surgery and neurology. Therefore, collaboration among these departments is very important.

Oromandibular dystonia, mental distress and oro-facial dysfunction-A follow-up 8-10 years after start of treatment with botulinum toxin.

BACKGROUND: Oromandibular dystonia (OMD) with involuntary jaw and tongue movements may be misdiagnosed as temporomandibular disorders (TMD) and because of the complex muscle activity and involvement of several small muscles, OMD is also considered difficult to treat. OBJECTIVES: The aim was to evaluate OMD in patients 8-10 years after start of treatment with botulinum toxin (BoNT) by self-reported and standardised global scales and questionnaires. METHODS: Of 21 previously reported patients with OMD, 14 responded to a mail health questionnaire to describe the disease course and treatment effect as well as the overall impact of OMD by a visual analogue scale (VAS), the Patient Health Questionnaire (PHQ) for depression and anxiety, and the Jaw Functional Limitation Scale (JFLS). The results were analysed with non-parametric statistical analysis (Wilcoxon matched-pairs test and Spearman's rank-order correlations). RESULTS: The OMD was still present in 13 patients. In nine patients, the BoNT treatment had continued as monotherapy or combined with oral medication. VAS for OMD was significantly reduced (P < 0.04) over the years, and most patients felt improvement from the treatment. However, the patients had still some functional limitations, typically regarding jaw mobility and communication, and both JFLS and mental distress (PHQ) were significantly correlated with the OMD VAS (rS 0.77 and 0.74). CONCLUSION: The results showed marked reduction of the experienced OMD with treatment and over time, and also stressed similarities between OMD and TMD. Both dentists and neurologists should be aware of this overlap and reduce misdiagnosis by applying an interdisciplinary approach.

Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.

BACKGROUND: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported. OBJECTIVES: We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years. METHODS: A 21-year-old male, with progressive bilateral sensorineural hearing loss since the age of 3, developed dystonic movements at the age of 12. The patient presented with progressive segmental craniocervical dystonia with jaw-opening, tongue protrusion, retrocollis and gradual overflow including upper limb dystonia. Pharmacological therapy was ineffective. At the age of 17, the patient's condition deteriorated with the risk of developing a dystonic state. RESULTS: DBS-GPi implantation resulted in a striking improvement. The Burke-Marsden-Fahn Dystonia Rating Scale (BMFDRS) score improved from 75 points before the surgery to 10 points at 3 months after DBS-GPi implantation. Neurological examination at the age of 21 showed mild dystonic movements, mainly oromandibular dystonia (BMFDRS: 15 points). The clinical phenotype of our patient was consistent with Mohr-Tranebjaerg syndrome (MTS). We performed genetic analysis of the TIMM8A gene (the only gene in which mutations are known to cause MTS), but the result was negative; however, other potentially new mutations have to be considered. CONCLUSIONS: Based on our case with the longest reported follow-up of 4 years and 2 earlier reports, we advise to consider DBS-GPi in patients with DDS with unsatisfactory effect of pharmacological treatment.

Fundamentals of Embouchure in Brass Players: Towards a Definition and Clinical Assessment.

Brass players may experience problems producing an optimal sound (or range of sounds) in their instrument. Assessing and treating dysfunctional embouchure requires knowledge of functional embouchure, but peer-reviewed literature on dysfunctional and functional embouchure is scarce. OBJECTIVE: This study aimed to provide a narrative overview of embouchure based on information from different scientific and clinical fields. This should be regarded as a first step in constructing a reliable, valid, and practical multi-item method to assess embouchure for brass players. METHODS: Literature reviews were conducted concerning: 1) the definition of embouchure, 2) physics and acoustics of embouchure, 3) functioning of embouchure-related structures, and 4) instruments to assess embouchure. Also, embouchure experts (clinicians, scientists, and elite wind players) were consulted for information and discussion. RESULTS: A proposal for a new definition of embouchure, an overview of the relevant physics and acoustics, functions of embouchure-related body structures, and the main methods to measure embouchure in brass playing are presented. CONCLUSION: Peer-reviewed information about the fundamentals of dysfunctional embouchure is scarce and sometimes contradictory. A new definition for embouchure is proposed: embouchure is the process needed to adjust the amount, pressure, and direction of the air flow (generated by the breath support) as it travels through the mouth cavity and between the lips, by the position and/or movements of the tongue, teeth, jaws, cheeks, and lips, to produce a tone in a wind instrument. An integrative overview is presented which can serve as a transparent foundation for the present understanding of functional and dysfunctional embouchure and for developing an evidence-based multi-item assessment instrument.

Oromandibular dystonia: a serious side effect of capecitabine.

BACKGROUND: Capecitabine has activity against several types of cancer. In 10-15% of patients treated with capecitabine, treatment is discontinued because of serious adverse reactions, mostly within the first weeks of treatment. CASE PRESENTATION: A 56 year-old female patient presented at the emergency department after ten days of chemotherapy with progressive airway obstruction and complaints of numbness of the tongue. She also had difficulty swallowing and was unable to speak. Laboratory findings were completely normal and no co-medication was used, in particular no dopamine antagonists. CONCLUSION: The case highlights the need for awareness that capecitabine may potentially lead to severe life-threatening complaints of oromandibular dystonia. We hypothesize that capecitabine passed the blood brain barrier which led to a disruption within the basal ganglia in this case. Prompt treatment with an anticholinergic drug and cessation of capecitabine in the patient case led to disappearance of complaints.

Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure.

We herein report a 76-year-old woman who developed lower cranial dystonia with a peculiar appearance of cheek inflation. The patient showed strong contraction of the orbicularis oris muscles. Consequently, her cheeks were passively inflated by expiration without exit. When the dystonic attack persisted, she developed cyanosis but recovered immediately after passive mouth opening. An autopsy revealed progressive supranuclear palsy. We tentatively named this characteristic dystonia "lower cranial dystonia with inflated cheeks" because of its peculiar appearance of inflated cheeks. This dystonia can cause respiratory failure. Therefore, neurologists should recognize such dystonia as a movement disorder emergency.

Subacute Horizontal Diplopia, Jaw Dystonia, and Laryngospasm.

Jaw dystonia and laryngospasm in the context of subacute brainstem dysfunction have been described in a small number of diseases, including antineuronal nuclear antibody type 2 (ANNA-2, also known as anti-Ri) paraneoplastic neurologic syndrome. Severe episodes of laryngospasms causing cyanosis are potentially fatal. Jaw dystonia can also cause eating difficulty, resulting in severe weight loss and malnutrition. In this report, we highlight the multidisciplinary management of this syndrome associated with ANNA-2/anti-Ri paraneoplastic neurologic syndrome and discuss its pathogenesis.

Tardive Oromandibular Dystonia Induced by Trazodone: A Clinical Case and Management from the Perspective of the Dental Specialist.

BACKGROUND: Tardive Oromandibular Dystonia is an iatrogenic drug-induced movement form of extrapyramidal symptoms associated primarily with chronic consumption of dopamine receptor blocking agents. Tardive symptoms attributable to selective serotonin reuptake inhibitors antidepressants are far less prevalent. CLINICAL CASE: The authors will present a clinical case and management, from the dental specialist perspective, of a 55-year-old female patient who developed tardive oromandibular dystonia induced by Trazodone prescribed for sleep insomnia. CONCLUSIONS: Trazodone-induced oromandibular dystonia is extremely rare. Early identification and assessment of tardive symptoms are imperative for successful treatment. Trazodone should be prescribed with caution in patients taking other medications with the potential to cause tardive syndromes.

Botulinum Toxin Therapy for Oromandibular Dystonia and Other Movement Disorders in the Stomatognathic System.

Various movement disorders, such as oromandibular dystonia, oral dyskinesia, bruxism, functional (psychogenic) movement disorder, and tremors, exist in the stomatognathic system. Most patients experiencing involuntary movements due to these disorders visit dentists or oral surgeons, who may be the first healthcare providers. However, differential diagnoses require neurological and dental knowledge. This study aimed to review scientific advances in botulinum toxin therapy for these conditions. The results indicated that botulinum toxin injection is effective and safe, with few side effects in most cases when properly administered by an experienced clinician. The diagnosis and treatment of movement disorders in the stomatognathic system require both neurological and dental or oral surgical knowledge and skills, and well-designed multicenter trials with a multidisciplinary team approach must be necessary to ensure accurate diagnosis and proper treatment.

Effects of Botulinum Toxin Therapy on Health-Related Quality of Life Evaluated by the Oromandibular Dystonia Rating Scale.

Oromandibular dystonia (OMD) refers to a focal dystonia in the stomatognathic system. Health-related quality of life (HRQoL) in isolated dystonia is associated with non-motor symptoms such as depression, anxiety, and pain, as well as motor symptoms. To evaluate HRQoL in patients with OMD, the therapeutic effects of botulinum neurotoxin (BoNT) therapy were assessed using a recently developed and validated comprehensive measurement tool called the Oromandibular Dystonia Rating Scale (OMDRS). Altogether, 408 patients (jaw closing dystonia, n = 223; tongue (lingual) dystonia, n = 86; jaw opening dystonia, n = 50; jaw deviation dystonia, n = 23; jaw protrusion dystonia, n = 13; and lip (labial) dystonia, n = 13) were evaluated at baseline and after the end of BoNT therapy or in a stable status. The total OMDRS score reduced significantly from 149.1 to 57.6 (p < 0.001). Mean improvement was 63.1%. All examiner-rated subscales (severity, disability, and pain) and patient-rated questionnaire scores (general, eating, speech, cosmetic, social/family life, sleep, annoyance, mood, and psychosocial function) were significantly lower at the endpoint than at baseline (p < 0.001). The BoNT injection had a highly positive impact on patient HRQoL, and the OMDRS could evaluate both motor phenomena and non-motor symptoms.

Clinical features, pathophysiology, treatment, and controversies of tremor in dystonia.

Dystonia and tremor frequently co-occur. In some cases, they have shared biological mechanisms, while in others dystonia and tremor are two comorbid conditions. The term "dystonic tremor" is used to describe tremor in those who have dystonia. Two mutually exclusive definitions of "dystonic tremor" were proposed. According to one definition, dystonic tremor is the tremor in the dystonic body part. An alternate definition of dystonic tremor entails irregular and jerky oscillations that have saw tooth appearance with or without overt dystonia. This paper outlines the differences in two definitions of dystonic tremor and identifies their limitations. Given the diverse views defining "dystonic tremor", this paper will use the term "tremor in dystonia". In addition, we will outline different ways to separate the subtypes of tremor in dystonia. Then we will discuss pathophysiological mechanisms derived from the objective measures and single neuron physiology analyses of tremor in dystonia. This article is part of the Special Issue "Tremor" edited by Daniel D. Truong, Mark Hallett, and Aasef Shaikh.

Oromandibular dystonia treatment following a loss of vertical dimension.

UNLABELLED: Oromandibular dystonia is a rare condition of hyperkinetic motor dysfunction in the orofacial area. It is a centrally mediated disorder of unknown aetiology and manifested by a sustained contraction of masticatory muscles, involving one or both lateral pterygoids, and pushing the mandible forward. The prognosis is poor and the treatment is symptomatic. This paper describes a case of a 38-year-old woman referred for a locked left TMJ who was diagnosed as having an oromandibular dystonia. A step-by-step diagnosis and treatment procedure is described. CLINICAL RELEVANCE: Knowledge of oromandibular dystonia may be valuable as rare medical diseases can be masked by common dental problems.

Jaw Pain and Oromandibular Dysfunction After a Complex Hospital Course: A Clinical Vignette.

ABSTRACT: A 38-yr-old man presented to the emergency department with severe chest pain and was found to have a type A aortic dissection. Forty-eight hours after an emergency mechanical Bentall and ascending hemiarch replacement, the patient developed agitation prompting administration of high-dose haloperidol. He was found to have evidence of multiple acute infarcts on head computed tomography/computed tomography angiography and brain magnetic resonance imaging. Four days later, he began to complain of jaw pain and difficulty opening his mouth. After admission to inpatient rehabilitation, he was found to have strong activity in the masseters bilaterally at rest on electromyography, indicating a diagnosis of oromandibular dystonia. Starting in the intensive care unit, the patient reported jaw pain and dysfunction for 40 days before having a diagnosis of oromandibular dystonia. At this point, treatment with onabotulinumtoxinA injections and baclofen did not provide relief. Because of an extended delay in diagnosis, it is believed that the patient has developed joint contractures. Oromandibular dystonia is an important diagnosis to consider in patients who experience jaw pain or difficulty with mouth opening. Treatment of this condition can decrease pain and trauma to oral structures as well as improve ability to perform oral hygiene, eat, and communicate.

Dystonia in Angelman syndrome: a common, unrecognized clinical finding.

INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by cognitive disability, speech impairment, hyperactivity and seizures. Movement disorders have been reported in almost all AS subjects and they are described as "tremulous movements of limbs, unsteadiness, clumsiness or quick, jerky motions". The presence of dystonia has barely been mentioned in subjects with AS and has never been studied in detail. The purpose of this study is to evaluate the prevalence, clinical features and severity of dystonia in a series of adolescents and adults with AS. METHODS: Whole body video recordings of patients with genetically confirmed AS were evaluated. Dystonia was evaluated by mean of the movement subscale of Burke-Fahn-Marsden Dystonia Rating Scale (BFM). RESULTS: Forty-four subjects with AS were evaluated. Fourteen recordings were excluded due to poor cooperation. We finally analyzed data of 30 subjects (15 F) with a median age of 28 years (range 15-51). Dystonia was present in 28/30 (93.3%) subjects. Among these, dystonia involved the upper limbs in 28/28 (100%), lower limbs in 8/28 (28.5%), mouth in 7/28 (25%), neck in 3/28 (10.7%), trunk in 1/28 (3.6%). Severity of dystonia ranged from slight to moderate. There was a linear correlation between severity of dystonia and increasing age. There was no difference in terms of severity of dystonia among genetic subgroups. CONCLUSIONS: Dystonia is a common and previously underrecognized clinical feature of adults and adolescents with AS.

[A drug induced deviation of the eyes: the oculogyric crisis]. / De oculogyre crisis.

An oculogyric crisis is a tonic conjugated deviation of the eyes, usually upward. We present two cases with a drug induced oculogyric crisis. The differential diagnoses should include epilepsy, a functional neurological movement disorder, ocular tics, ocular dyskinesia or ocular bobbing. Typically, in an oculogyric crisis the patient's awareness is intact; accompanied signs can be blepharospasm, neck flexion, jaw opening with or without tongue protrusion and autonomic symptoms. The underlying pathophysiology seems an imbalance between cholinergic and dopaminergic pathways. Most frequently an oculogyric crisis is caused by antidopaminergic medications, for example neuroleptics and metoclopramide. Treatment of medication-induced oculogyric crisis with parenteral anticholinergics typically leads to a fast remission of symptoms. Consider tocontinue anticholinergic therapy orally for a few days.

Oromandibular dystonia: a diagnosis not to miss.

Oromandibular dystonia (OMD) is characterised by sustained or repetitive involuntary movements of the jaw, face, and tongue. People with the condition may present to their dentist, general practitioner, or a secondary care specialist with non-specific symptoms including jaw or facial pain, bruxism, subluxations or dislocations of the jaw; fractured teeth or dental restorations, or both; or jaw tremor. Many clinicians are not aware of the disorder and this can lead to delayed diagnoses, unnecessary complications, and inappropriate treatment. OMD is an important diagnosis not to miss because referral for specialist management can provide good long-term results. To aid early, accurate diagnosis, this paper focuses on the key clinical features of the disorder and its dental and medical mimics.

Orofacial dystonia and asssociated bulbar symptoms in multiple system atrophy: A blinded video analysis.

BACKGROUND: Orofacial dystonia (OFD) is considered a supporting feature for a diagnosis of Multiple System Atrophy (MSA). However, the association of OFD with other adjacent symptoms has not been explored. OBJECTIVES: To identify clinical characteristics of OFD and associated bulbar symptoms in MSA patients. METHODS: In this blinded trial, video clips of 24 MSA patients were reviewed by two movement disorder neurologists who rated the presence of OFD. Analysis was performed to determine correlations between the presence of OFD and clinical demographics as well as associated bulbar symptoms. RESULTS: There were 14 patients with MSA-P and 10 patients with MSA-C. OFD was identified in seven patients (29.16%) and MSA-P as the majority (85.71%). Oromandibular dystonia (OMD) was hardly ever identified in isolation with the most frequent combination being OMD with upper facial dystonia, blepharospasm and platysma dystonia. All OMD patients had the jaw-closing subtype. Mean onset of OFD was 1.7 (SD = 0.5) years after the first symptom onset and 1.1 years (SD = 0.4) after the introduction of levodopa. Patients with OFD used significantly higher levodopa equivalent daily dosage (LEDD) than those without (p = 0.02). There were moderate correlations between the presence of OFD and LEDD (r = 0.458, p = 0.02), and dysarthria (r = 0.639, p = 0.001) while a strong correlation was demonstrated between the presence of OFD and dysphagia (r = 0.9, p < 0.001). CONCLUSION: OFD is probably a manifestation of motor fluctuations in MSA and its presence is significantly associated with bulbar symptoms. Neurologists should inquire about dysphagia when encountering MSA patients with OFD for early recognition and appropriate management.