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.

[Efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome].

Objective: To evaluate the efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome. Methods: The Clinical data of 56 patients with Meige syndrome in the Department of Pain Medicine, Affiliated Hospital of Jiaxing University from June 2019 to January 2023 were retrospectively analyzed [19 males and 37 females, aged 42-76 (58.6±8.3) years], including 51 cases of blepharospasm, 3 cases of oromandibular dystonia and 2 cases of blepharospasm concomitant with oromandibular dystonia. CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves was performed on different types of Meige syndrome. And the efficacy and complications of the technique were observed. Results: Fifty-one patients with blepharospasm Meige syndrome underwent CT-guided radiofrequency of facial nerve through bilateral stylomastoid foramen punctures, the symptoms of blepharospasm disappeared completely, leaving bilateral mild and moderate facial paralysis symptoms. Three patients with oral-mandibular dystonia underwent CT-guided radiofrequency therapy by bilateral foramen ovale puncture of mandibular branches of trigeminal nerve, masticatory muscle spasm disappeared, the patients had no difficulty opening the mouth, and the skin numbness in bilateral mandibular nerve innervation area was left. Two cases of Meige syndrome with blepharospasm concomitant with oromandibular dystonia were treated by radiofrequency of facial nerve and mandibular branch of trigeminal nerve, and all symptoms disappeared. The patients were followed up for 1-44 months after the operation, and the symptoms of mild and moderate facial paralysis disappeared at (3.2±0.8) months after the operation, but the numbness did not disappear. Three patients with blepharospasm recurred at the 14, 18 and 22 months after the operation, respectively, while the rest cases did not recur. Conclusions: According to different types of Meige syndrome, CT-guided partial radiofrequency ablation of responsible cranial nerves can effectively treat the corresponding type of Meige syndrome. The complications are only mild and moderate facial paralysis which can be recovered, and/or skin numbness in the mandibular region.

Transient Palatal Tremor and Action Induced Foot and Leg Dystonia due to Hypertrophic Olivary Degeneration: a Case Report.

Hypertrophic olivary degeneration (HOD) is a rare phenomenon that occurs after various insults to the Guillain-mollaret triangle (GMT). HOD is unique because the degeneration of inferior olivary nucleus becomes hypertrophic rather than atrophic. In this study, a 31-year-old woman developed HOD after pontine cavernoma surgery had been performed. The clinical manifestation was involuntary intorsion of right lower extremity during walking, which has not been reported in the literature. The woman also presented with palatal tremor, the most classic symptom of HOD. HOD's imaging trait include olive hypertrophy with increased T2 signal intensity on MRI, which are corresponding to the pathological findings. HOD is a self-limiting disease and excessive treatments are unnecessary.

Geriatric oral and maxillofacial dysfunctions in the context of geriatric syndrome.

OBJECTIVES: To propose the application of the concept of geriatric syndrome for common geriatric oral and maxillofacial dysfunctions and to suggest the necessity of developing effective evaluation methods for oral and maxillofacial frailty. DESIGN: The concepts of frailty and geriatric syndrome based on multi-morbidity and polypharmacy were applied to five common geriatric oral medicinal dysfunctional problems: salivary gland hypofunction (dry mouth), chronic oral mucosal pain disorders (burning mouth symptoms), taste disorders (taste disturbances), swallowing disorders (dysphagia), and oral and maxillofacial movement disorders (oromandibular dyskinesia and dystonia). RESULTS: Each of the dysfunctions is caused by various kinds of diseases and/or conditions and medications, thus the concept of geriatric syndrome could be applied. These dysfunctions, suggested as components of oral and maxillofacial geriatric syndrome, are associated and interacted with each other in a complexity of vicious cycle. The resulting functional impairments caused by this syndrome can cause oral and maxillofacial frailty. CONCLUSIONS: Geriatric oral and maxillofacial dysfunctions could be better appreciated in the context of geriatric syndrome. The development of effective methods for evaluating the severity of these dysfunctions and the resulting frailty is essential.

Use of onabotulinumtoxinA in post-traumatic oromandibular dystonia.

PURPOSE: Post-traumatic oromandibular dystonia (PTOD) is a disorder whose symptoms can include bruxism, muscle pain, and involuntary muscle contraction, among others. The use of onabotulinumtoxinA (ObT-A) is helpful in controlling the symptoms of patients with PTOD. The aim of this study was to evaluate the use of ObT-A in the treatment of PTOD. MATERIALS AND METHODS: In this prospective case-series study, the population consisted exclusively of patients diagnosed with PTOD, without distinction by age or gender, from January 2007 to December 2010. The patients were diagnosed with PTOD and treated with ObT-A infiltration (primary predictor) at the Department of Maxillofacial Surgery at the Hospital Clínico Mutual de Seguridad (Santiago, Chile). The primary outcome variables were bruxism, muscle pain, and involuntary muscle contraction. The data were obtained through questionnaires registered in tables at each control. Systat 13.1 was used for statistical analysis. The statistical test used to compare patients' evolution over time was the test of signs. RESULTS: Thirty male patients 18 to 65 years old diagnosed with PTOD were treated with ObT-A infiltrations. The signs and symptoms associated with oromandibular dystonia (bruxism, muscle pain, and involuntary muscle contraction) were decreased in all patients after ObT-A infiltrations. CONCLUSIONS: The positive results and the absence of complications recommend the use of the infiltration protocol presented in this study for the treatment of PTOD.

Self-mutilation of the lower lip in a child with dystonia secondary to megalencephalic leukoencephalopathy treated with botox injections: a case report.

PURPOSE: We report the case of a 10-year old boy who had been diagnosed with megalencephalic leukoencephalopathy several years earlier. Because of the patient's oral dystonic activity, a traumatic, nonhealing, chronic ulcer had developed on his lower lip. MATERIALS AND METHODS: Botox-A was injected into the mentalis, orbicularis oris, and bilateral masseter muscles. RESULTS: The patient showed decreased dystonia and gradual complete healing of the traumatic ulcer of the lower lip. CONCLUSIONS: The treatment of patients with self-mutilation to the lips will often be difficult. Traditionally, patients have been treated with various medications, oral appliances, and even tooth extraction. The results of the present case report suggest that Botox should be considered as a possible first-line strategy, along with oral appliances.

[Cervical myelopathy associated with os odontoideum after botulinum toxin treatment in a patient with cerebral palsy].

Os odontoideum is a separate ossicle from the odontoid process from the body of the axis by a variable transverse gap. A boy with cerebral palsy probably due to prematurity and kernicterus, was treated with botulinum toxin for continuous dystonic movements at the age of 3.5 years. Although botulinum toxin appeared to be remarkably effective for relaxing hypertonia, abnormal frequent anterior flexion of the neck remained. Because of feeding difficulty and frequent aspiration episodes, additional botulinum toxin therapy was discontinued. His condition seemed to be stable and he could walk with support at age 7. However, at age 8, he presented with decreased movement of the extremities and bilateral ankle clonus. Radiographic examination of the cervical spine revealed cystic lesion and os odontoideum. With cervical posterior fixation, the patient made a good recovery. Although athetoid cerebral palsy displays an increased risk of cervical myelopathy, os odontoideum is rare in early childhood. The frequent dynamic stress of the neck due to an unbalanced, persistently contracted state and sudden collapse, possibly attributed to botulinum toxin therapy, might have led to atlantoaxial instability and os odontoideum.

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.

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.

Dystonia assessment in children with cerebral palsy and periventricular leukomalacia.

OBJECTIVE: To describe the frequency, motor phenotype, clinical patterns and functional consequences of dystonia in patients with cerebral palsy (CP) in the setting of periventricular leukomalacia. METHODS: Retrospective analysis of a cohort of 31 patients with CP and periventricular leukomalacia. Gross Motor Function Classification System (GMFCS) and Manual Ability Classification System (MACS) were used to classify functional ability. Spasticity was rated using the Modified Ashworth Scale. Presence of dystonia was assessed by reviewing video recordings, and its severity by using the Burke-Fahn-Marsden Dystonia Rating Scale. RESULTS: All patients showed evidence of dystonia involving upper and/or lower limbs, neck, trunk, mouth and eyes in order of frequency. In 29% of patients dystonia involved only the limbs and in 71% it was multifocal. Dystonia severity ranged from slight to severe. Severity and distribution of dystonia did not correlate with gender, age, weeks of gestation or duration of neonatal unit stay. GMFCS and MACS correlated with dystonia but not with spasticity. CONCLUSIONS: Severity of dystonia, but not spasticity is associated with the severity of motor functional disability in CP patients with periventricular leukomalacia and demonstrates the key role of dystonia in the motor function of these patients.

DNAJC6 mutation causing cranial-onset dystonia with tremor dominant levodopa non-responsive parkinsonism: A novel phenotype.

DNAJC6 mutation causes two types of phenotypes: slowly progressive parkinsonism with levodopa response and rapidly progressive parkinsonism with additional manifestations like intellectual disability, epilepsy etc. We report a new phenotype wherein an adolescent girl developed blepharospasm followed by jaw opening, lingual and cervical dystonia followed by tremors of limbs (rest and action) with rigidity, bradykinesia. The dystonia-parkinsonism phenotype has not been described. She had novel homozygous missense mutation in DNAJC6 gene.

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.

Oromandibular dystonia following dental treatment: case reports and discussion.

Oromandibular dystonia (OMD) is a movement disorder characterised by involuntary, repetitive, and patterned muscle contractions of varying severity, affecting the jaws, tongue, face, and pharynx. It is most commonly idiopathic or medication-induced, but peripheral trauma sometimes precedes the condition. There have been several reports of OMD following dental treatment, and this paper discusses two cases which occurred following extractions and full dentures.

[Dystonia, tremor and repetitive instrumental use]. / Dystonies et tremblements d'utilisation instrumentale répétitive.

Three characteristic observations are presented along with three tables presenting 24 patients with the following elements in common: excessively repeated use of an instrument such as a pen, a musical instrument or a tool. The appearance after that use of a central pathological phenomenon that includes a local dystonia of a hand or the mouth, a tremor, or the association of a tremor and a dystonia, all within the muscular domain corresponding to that of the use. The discussion, which is based exclusively on the clinical findings, deals with the following elements: the role of the use of the instrument rather than task itself, the predominant pathogenic factor which is the repetitive action, to which is added a genetic component in one incompletely penetrant case of DYT 1, and a probable genetic susceptibility in the others. The absence of improvement with rest distinguishes this central pathology from rheumatologic or orthopaedic problems involving repetitive activities. The evolution is slowly declining when the responsible action is continued. This occurs in three stages: a specific disorder involving only the use of the particular instrument, a more enlarged involvement affecting other activities and eventually a dystonia associated with a tremor or a postural tremor always located to the initial area. The therapeutic interventions suggested by the pathologic role of the repetitive movement is: (1) to advise a new training for the instrument that excludes the habitual movement; (2) to advise the patient to vary any newly acquired repetitive movements.

Case of primary Sjogren's syndrome preceded by dystonia.

There are only six cases in literature that describe development of dystonia with Sjogren's syndrome (SS). We describe a case of a 43-year-old woman who presented with symptoms including movement disorder, sensory neurogenic bladder, sensory loss and neuropathic pain, migraine like headaches, musculoskeletal pain, Raynaud's phenomenon and dysautonomia. Symptoms started in 2000, with weakness that progressed to dystonia in 2003. Diagnostic work-up was inconclusive with negative inflammatory serologies, cerebrospinal fluid and MRI for many years. After patient developed sicca syndrome with dry eyes and mouth in 2009, her rheumatoid factor titre was elevated (550 IU/mL), erythrocyte sedimentation rate, anti-Sjogrens syndrome-related antigen A (anti-Ro/SSA) and anti-SSB/La: anti-Sjogrens syndrome-related antigen B (anti-La/SSB) became positive. Lip biopsy confirmed diagnosis of SS. She was diagnosed with primary SS with neurological involvement. Her symptoms responded well to intravenous methylprednisolone. Symptoms stabilised with trials of immune-suppressive therapy. This is a case that demonstrates the delay of diagnosing SS with preceding unique neurological association.

Labial dystonia after facial and trigeminal neuropathy controlled with a maxillary splint.

A 27-year-old woman with bruxism suffered a spider bite (Loxosceles rufescens) on the left cheek that caused severe local cellulitis, facial palsy, and painful hyperesthesia over the two lower trigeminal nerve divisions. Facial but not trigeminal neuropathy improved, and she developed a labial dystonia that only corrected while pressing the right medial incisor. A specially designed maxillary splint that continuously pressed it suppressed both dystonia and related spontaneous firing of motor unit potentials in electromyography. Overstimulation of the contralateral trigeminal territory possibly compensated for the altered left trigeminal nerve input, balanced proprioceptive influences at the central inhibitory-excitatory circuitry, and controlled dystonia.

Acute Dystonic Reaction Following General Anesthetic Agent Use.

Background: A 36-year-old Thai female who underwent a thymectomy under general anesthesia developed acute abnormal movements in the craniofacial region immediately after awakening with preserved consciousness. Phenomenology: Intermittent abnormal movements included oculogyric crisis; tongue protrusion; blepharospasm; and oro-mandibular dystonia consisting of risus sardonicus, jaw opening, and right torticollis. Educational value: An acute dystonic reaction can be a complication of either single or combined general anesthetic agents.

Botulinum toxin treatment for upper airway collapse resulting from temporomandibular joint dislocation due to jaw-opening dystonia.

To examine the effects of botulinum toxin injection application for the treatment of upper airway obstruction due to hyperactive lateral pterygoid muscle contraction, we applied botulinum toxin injection. A 20 year-old male patient had involuntary mouth opening after a diabetic coma. His mouth opened excessively (84 mm) particularly when he was in a nervous or stressed condition. This resulted in a bilateral temporomandibular dislocation and, consequently, upper airway collapse. The differential diagnosis of jaw-opening oromandibular dystonia was made. Botulinum toxin type A was bilaterally injected into the lateral pterygoid muscle. The excessive mouth opening was reduced, and the patient showed no temporomandibular joint (TMJ) dislocation or experienced any further airway collapse after the injections. We successfully applied botulinum toxin to a patient with upper airway obstruction and TMJ dislocation relative to jaw-opening dystonia.

Hyperkinetic movement disorders during and after acute stroke: the Lausanne Stroke Registry.

BACKGROUND AND OBJECTIVE: To study consecutive patients with acute or delayed hyperkinetic movement disorders in the Lausanne Stroke Registry. METHODS: We have identified 29 patients with acute or delayed movement disorders among 2500 patients who had their first-ever acute stroke in the Lausanne Stroke Registry. SETTING: Department of Neurology, Lausanne University Hospital. RESULTS: Our patients presented with hemichorea-hemiballism (11 patients), hemidystonia (5 patients), stereotypias (2 patients), jerky dystonic unsteady hand (3 patients), asterixis (2 patients), initial limb-shaking (2 patients), bilateral tremor (1 patients), bilateral jaw myoclonus (1 patient), hemiakathisia (1 patient) and dysarthria-dyskinetic hand (1 patient). On neuroimaging a lesion was found in 25 of the 29 cases in the territory of the middle cerebral artery (7 deep, 2 superficial and 2 complete), the posterior cerebral artery (11 patients), both middle and posterior cerebral arteries (2 patients) or the anterior cerebral artery (1 patient). The jerky dystonic unsteady hand syndrome was associated with a specific lesion, an infarct in the territory of the posterior choroidal artery. Presumed small-vessel disease was the commonest cause of stroke (15 patients). Only 3 patients had persistent movements (> 6 months). CONCLUSION: Hyperkinetic movement disorders are uncommon in acute stroke (1%), the commonest types being hemichorea-hemiballism and hemidystonia. These movement disorders are associated with stroke involving the basal ganglia and adjacent white matter in the territory of the middle or the posterior cerebral artery. The jerky dystonic unsteady hand syndrome is specifically associated with a small infarct in the territory of the posterior choroidal artery. The abnormal movements usually regress spontaneously.