Facial Movement Disorders Research Articles

Association between Rhabdomyolysis and RHOBTB2 Encephalopathy

First described in 2018, heterozygous variants of the RHOBTB2 gene, affect the translation of a Rho GTPase protein, essential in neuronal development and synaptic plasticity. The few cases described are characterized by a clinical spectrum of epileptic encephalopathy, psychomotor and cognitive delay, microcephaly, nonspecific facial dysmorphism and movement disorder. We report a case of a female child, who had two seizures at 28 days of age. She exhibited a normal psychomotor development, until she had another seizure at 6 months, after which she started showing a movement disorder, followed by impair- ment of psychomotor development. Amongst the multiple hospitalizations, one of them was due to status epilepticus with severe rhabdomyolysis. At the age of 7, by ex- ome sequencing, a de novo pathogenic variant was identified in the RHOBTB2 gene. Although the main characteristics of this syndrome have been described in previous studies, its possible relation with rhabdomyolysis has never been reported.

Long-term stable efficacy of botulinum toxin A in facial movement disorders with no need for increasing dose.

Botulinum toxin A is considered an effective treatment for involuntary facial movements. We examined whether treatment efficacy maintained or changed over time with two products, Botox and Dysport, in patients with hemifacial spasm, facial synkinesis and benign essential blepharospasm.We retrospectively investigated 87 consecutive patients (51 women, 36 men) who had undergone treatment for ≥6 years. Long-term effects, as well as side effects of Botox or Dysport local injections were evaluated. The first three treatments were considered the titration period and not taken into account when testing for dose changes.Mean treatment duration was 10 years (range 6–11, SD 1.0), 2441 treatments were administered, 1162 with Botox and 1279 with Dysport, the two brands were interchanged as needed. Good to full improvement was seen in 90% of patients both with both brands. Injection doses and treatment responses were consistent during the study with both drugs. No major side effects were reported, and relatively few minor adverse events were reported, with clear reduction from the titration period (6.1%), to the remainder of the study (3.9%).Botulinum toxin (BTX-A) is a satisfactory long-term treatment without need for dose increase over. Both Botox and Dysport were effective when used interchangeably.

Utilization of Smartphone Depth Mapping Cameras for App-Based Grading of Facial Movement Disorders: Development and Feasibility Study.

BackgroundFor the classification of facial paresis, various systems of description and evaluation in the form of clinician-graded or software-based scoring systems are available. They serve the purpose of scientific and clinical assessment of the spontaneous course of the disease or monitoring therapeutic interventions. Nevertheless, none have been able to achieve universal acceptance in everyday clinical practice. Hence, a quick and precise tool for assessing the functional status of the facial nerve would be desirable. In this context, the possibilities that the TrueDepth camera of recent iPhone models offer have sparked our interest.ObjectiveThis paper describes the utilization of the iPhone’s TrueDepth camera via a specially developed app prototype for quick, objective, and reproducible quantification of facial asymmetries.MethodsAfter conceptual and user interface design, a native app prototype for iOS was programmed that accesses and processes the data of the TrueDepth camera. Using a special algorithm, a new index for the grading of unilateral facial paresis ranging from 0% to 100% was developed. The algorithm was adapted to the well-established Stennert index by weighting the individual facial regions based on functional and cosmetic aspects. Test measurements with healthy subjects using the app were performed in order to prove the reliability of the system.ResultsAfter the development process, the app prototype had no runtime or buildtime errors and also worked under suboptimal conditions such as different measurement angles, so it met our criteria for a safe and reliable app. The newly defined index expresses the result of the measurements as a generally understandable percentage value for each half of the face. The measurements that correctly rated the facial expressions of healthy individuals as symmetrical in all cases were reproducible and showed no statistically significant intertest variability.ConclusionsBased on the experience with the app prototype assessing healthy subjects, the use of the TrueDepth camera should have considerable potential for app-based grading of facial movement disorders. The app and its algorithm, which is based on theoretical considerations, should be evaluated in a prospective clinical study and correlated with common facial scores.

Clinical Characteristics of Functional Movement Disorders in the Stomatognathic System.

Background: Functional (psychogenic) movement disorders often have distinguishable clinical features in the orofacial region. Tonic mandibular deviation accompanying ipsilateral downward and lateral lip pulling is the most common phenotype seen in patients with facial functional movement disorders. However, functional movement disorders in the stomatognathic system are underrecognized.Objective: This study aimed to evaluate clinical characteristics and phenomenology in patients with functional movement disorders in the stomatognathic system.Methods: Ten-item inclusion criteria (point range: 0–10) for functional movement disorders in the stomatognathic system was produced, based on previously established criteria for functional movement disorders and general signs of functional facial dystonia, to determine subject inclusion. The criteria included inconsistency, incongruence, and paroxysm in symptoms; rapid onset; distractibility; suggestibility; static course; spreading to multiple sites; spontaneous remission; and lack of sensory tricks. Fifty-eight patients [42 women (72.4%), 16 men (27.6%); mean age: 46.2 years] scored over 7 points on the criteria and were included in further analyses. Characteristic features, including the pattern and site of abnormal movements, were assessed in clinical examination.Results: Frequent items in the scale were inconsistent symptoms (93.1%), incongruous symptoms (91.4%), spreading to multiple sites (89.7%), paroxysmal symptoms (86.2%), and lack of sensory tricks (81%). Sixty percent of patients exhibited a pattern resembling dystonia. Some patients had a combination of organic and functional disease. Common involuntary movements included jaw deviation (74.1%), jaw closing (50%), lip pulling (34.5%), and tongue movement (31%). A functional dystonia phenotype (unilateral lower lip pulling and jaw deviation) was observed in 26 patients (44.8%). Characteristic features of functional stomatognathic movement disorders were rapidly repeating mandibular (lateral or tapping) and tongue movements (27.6%), which fluctuated in speed and direction.Conclusion: In 58 patients with functional movement disorders in the stomatognathic system, the functional dystonia phenotype was observed in 44.8%. Furthermore, 27.6% of patients showed the most characteristic type of functional stomatognathic movement disorders: very fast repeated jaw and/or lingual movements.

A Review of Periocular Botulinum Neurotoxin on the Tear Film Homeostasis and the Ocular Surface Change.

Clinical usage of botulinum neurotoxin (BoNT) in ophthalmology has dramatically increased since the 1980s and has become one of the most widely used agents for treating facial movement disorders, autonomic dysfunction and aesthetic wrinkles. Despite its high efficacy, there are some complications with periocular BoNT injections due to its chemodenervation effect. Among these, there is still controversy over the BoNT effect on tear film homeostasis and the ocular surface. A periocular BoNT injection could dry the eye by reducing tear production of the lacrimal gland and increase tear evaporation due to potential eyelid malposition and abnormal blinks. On the contrary, the injection of BoNT in the medial eyelids could treat dry eye disease by impairing lacrimal drainage. Regarding the ocular surface change, corneal astigmatism and high-order aberrations may decrease due to less eyelid tension. In conclusion, the entire awareness of the effect of BoNT and the patients’ ocular condition is crucial for successful and safe results.

Abnormal Eye and Cranial Movements Triggered by Examination in People with Functional Neurological Disorder

ABSTRACTThe diagnosis of functional neurological disorder (FND) relies on the demonstration of positive symptoms and signs, as supported by recent changes in DSM5. We recorded the findings of routine clinical eye movement assessment in 101 consecutive new patients with FND. Clinical examination triggered facial and eye movement disorders in 46% of patients, all with positive characteristics of functional movement disorder. These are useful as supporting features in making a positive diagnosis of FND.

Evaluation of Societal Health Utility of Facial Palsy and Facial Reanimation

The severity of a health state may be quantified using health utility measures. The utility of flaccid unilateral facial paralysis and unilateral moderate to severe postparalytic facial nerve syndrome with synkinesis may be challenging to discern from photographs alone. To determine the societal health utility of flaccid unilateral facial paralysis, unilateral moderate to severe postparalytic facial nerve syndrome, and post-facial reanimation using standard video. This survey study was conducted at the Massachusetts Eye and Ear and the Harvard Decision Science Laboratory from June 14, 2017, to August 3, 2017. Healthy adult naïve observers were recruited through advertising in the Cambridge, Massachusetts, area. Participants (n = 298) completed the web-based, interactive survey in person. The survey comprised clinical vignettes consisting of symptom summaries, videos, and pictures depicting 5 health states. Adult naïve observers ranked the utility of 5 randomized health states (flaccid unilateral facial paralysis, unilateral moderate to severe postparalytic facial nerve syndrome, post-facial reanimation, monocular blindness, and binocular blindness) according to the visual analog scale (VAS), standard gamble (SG), and time trade-off (TTO) measures. Standard videos of patients' facial function were used. In total, 377 naïve observers were recruited and completed the survey in its entirety. Of the 377 participants, 298 (79.0%) were included for analysis. Among the 298 participants, 151 (50.7%) were female, 146 (49.0%) were male, with a mean (SD) age of 33.0 (15.1) years. No differences in health utility scores (SD) were observed between flaccid unilateral facial paralysis and unilateral moderate to severe postparalytic facial nerve syndrome (VAS: 0.598 [0.213] vs 0.629 [0.207]; SG: 0.714 [0.245] vs 0.748 [0.237]; TTO: 0.716 [0.248] vs 0.741 [0.247]). Both health states rated substantially worse than monocular blindness (VAS: 0.691 [0.212]; SG: 0.817 [0.204]; TTO: 0.826 [0.196]) and post-facial reanimation (VAS: 0.742 [0.189]; SG: 0.833 [0.206]; TTO: 0.838 [0.19]). Health utility scores for flaccid unilateral facial paralysis and unilateral moderate to severe postparalytic facial nerve syndrome appeared to be equivalent and worse than that for monocular blindness, whereas scores for post-facial reanimation were substantially higher than the scores for the 2 facial movement disorders. These findings may provide insights into the societal advantages of facial reanimation surgery. NA.

Increase lipid tear thickness after botulinum neurotoxin A injection in patients with blepharospasm and hemifacial spasm

The aim of this study was to investigate changes in the tear film lipid layer thickness (LLT) and aqueous tear production after botulinum neurotoxin A (BoNT) injection in patients with benign essential blepharospasm (BEB) and hemifacial spasm (HFS). Eleven and six patients with BEB and HFS, respectively, who received BoNT injection were consecutively enrolled in this prospective study. The blepharospasm disability index (BSDI), blink pattern, dry eye symptoms, Schirmer test 1 findings, LLT, eyelid performance, and corneal integrity were evaluated before and after treatment. Both BEB and HSF patients experienced remarkable relief from spasms and ocular discomfort after BoNT injection. LLT, the partial blink rate, the snap-back time, the lid distraction distance, and lateral canthal laxity were significantly increased at 1 month after treatment. There were no significant changes in Schirmer test 1 findings and meibomian gland dropout. Our findings suggest that LLT, a decisive factor for tear film stability, significantly increases at 1 month after BoNT injection for BEB and HFS. A decrease in BSDI and an increase in the snap-back time may contribute to the increase in LLT; this mechanism is probably responsible for the relief from dryness after BoNT injection in patients with facial movement disorders.

Diagnosis of primary hemifacial spasm

The diagnosis of primary hemifacial spasm (pHFS), due to a benign compression of the facial motor nerve by a vessel, within or close to its root exit zone, is often made with delay. Misdiagnosis includes psychogenic spasm, tics, facial myokymia or blepharospasm, but in fact post-facial palsy synkinesis (post-paralytic HFS) is the closest clinical condition, because it is limited to the territory of the facial nerve of a single hemiface. The differential diagnosis between these two entities, whose pathophysiological mechanisms are very different, can be made by electroneuromyographic (ENMG) examination. In addition, magnetic resonance imaging (MRI) is essential to show the offending vessel at the origin of pHFS and the absence of other causes of nerve compression. However, the diagnosis cannot be made on MRI basis alone, since a neurovascular conflict can be present in clinically asymptomatic subjects. This article reviews the clinical, MRI, and ENMG features in favour of a pHFS diagnosis as well as the various differential diagnoses of this involuntary facial movement disorder.

Progress of the Mechanism of Acupuncture to Promote Repair of Facial Nerve Injury

Facial nerve injury results in facial muscle movement disorders that interferes with patient's life. Acupuncture is an effective therapy for facial nerve injury, but its mechanism has not been clarified. The evidence supports that acupuncture can accelerate the repair of facial nerve injury by adjusting the electric wave of patient's facial muscle, improving facial blood circulation, and promoting the expression of cell and protein molecule.

Brueghel Syndrome or Meige Syndrome? Two Sides of a Same Disease.

Different eponyms such as "Wood syndrome," Meige syndrome, "Brueghel syndrome," "Blepharospasm plus syndrome" have been used to describe segmental craniocervical dystonias. These facial and/or oromandibular movement disorders are characterized by muscle contractions and spasms involving eyes, facial region, and sometimes pharynx, jaw, floor of the mouth, and tongue. The pathophysiology of craniocervical dystonia is poorly understood, but abnormal plasticity and impaired inhibition are suspected. Injection of botulinum toxin appears to be the best therapeutic option for treating segmental craniocervical dystonia. The objective of this chapter is to depict the history of segmental craniocervical dystonia in order to delineate the phenotypic spectrum of the disorders and to distinguish this entity from other facial and/or oromandibular movement disorders.

Psychogenic facial movement disorder: a case report

Psychogenic facial movement disorder: a case report

Initial severity of motor and non-motor disabilities in patients with facial palsy: an assessment using patient-reported outcome measures.

Patients with facial palsy (FP) not only suffer from their facial movement disorder, but also from social and psychological disabilities. These can be assessed by patient-reported outcome measures (PROMs) like the quality-of-life Short-Form 36 Item Questionnaire (SF36) or FP-specific instruments like the Facial Clinimetric Evaluation Scale (FaCE) or the Facial Disability Index (FDI). Not much is known about factors influencing PROMs in patients with FP. We identified predictors for baseline SF36, FaCE, and FDI scoring in 256 patients with unilateral peripheral FP using univariate correlation and multivariate linear regression analyses. Mean age was 52±18years. 153 patients (60%) were female. 90 patients (31%) and 176 patients (69%) were first seen <90 or >90days after onset, respectively, i.e., with acute or chronic FP. House-Brackmann grading was 3.9±1.4. FaCE subscores varied from 41±28 to 71±26, FDI scores from 65±20 to 70±22, and SF36 domains from 52±20 to 80±24. Older age, female gender, higher House-Brackmann grading, and initial assessment >90days after onset were independent predictors for lower FaCE subscores and partly for lower FDI subscores (all p<0.05). Older age and female gender were best predictors for lower results in SF36 domains. Comorbidity was associated with lower SF General health perception and lower SF36 Emotional role (all p<0.05). Specific PROMs reveal that older and female patients and patients with chronic FP suffer particularly from motor and non-motor disabilities related to FP. Comorbidity unrelated to the FP could additionally impact the quality of life of patients with FP.

Chapter 31 - Functional facial and tongue movement disorders

Functional movement disorders (FMDs) affecting the eyelids, tongue, and other facial muscles are often underrecognized because their phenomenology has not been fully characterized. Nevertheless, these disorders are more common than previously thought. In this chapter we will discuss the phenomenology as well as the clinical and instrumental diagnosis of facial FMDs. Facial FMDs should be considered when a patient exhibits any combination of the following features: (1) fixed unilateral facial contractions, especially with lower lip, with or without ipsilateral jaw involvement, of maximal severity at onset; (2) inconsistent features such as changes in side and pattern during or between examination; (3) associated somatoform or nonphysiologic sensory or motor findings; (4) reduction or abolition of facial spasm with distraction; (5) response to suggestion or psychotherapy; (6) rapid onset and/or spontaneous remissions; and (7) normal neurologic examination. Supportive features are young age, female gender, and associated medical conditions such as depression, headaches, facial pain, fibromyalgia, or irritable-bowel syndrome. Finally, the differential diagnosis with the organic counterparts will be also addressed, particularly with respect to blepharospasm, oromandibular dystonia, and hemifacial spasm.

Looking beyond the face: A training to improve perceivers’ impressions of people with facial paralysis

ObjectiveHealthcare providers and lay people alike tend to form inaccurate first impressions of people with facial movement disorders such as facial paralysis (FP) because of the natural tendency to base impressions on the face. This study tested the effectiveness of the first interpersonal sensitivity training for FP. MethodsUndergraduate participants were randomly assigned to one of two training conditions or an untrained control. Education raised awareness about FP symptoms and experiences and instructed participants to form their impressions based on cues from the body and voice rather than the face. Education+feedback added feedback about the correctness of participants’ judgments. Subsequently, participants watched 30s video clips of people with FP and rated their extraversion. ResultsParticipants’ bias and accuracy in the two training conditions did not significantly differ, but they were significantly less biased than controls. Training did not improve the more challenging task of accurately detecting individual differences in extraversion. ConclusionEducating people improves bias, but not accuracy, of impressions of people with FP. Practice implicationsInformation from the education condition could be delivered in a pamphlet to those likely to interact with this population such as healthcare providers and educators.

Hemifacial Spasm and Neurovascular Compression

Hemifacial spasm (HFS) is characterized by involuntary unilateral contractions of the muscles innervated by the ipsilateral facial nerve, usually starting around the eyes before progressing inferiorly to the cheek, mouth, and neck. Its prevalence is 9.8 per 100,000 persons with an average age of onset of 44 years. The accepted pathophysiology of HFS suggests that it is a disease process of the nerve root entry zone of the facial nerve. HFS can be divided into two types: primary and secondary. Primary HFS is triggered by vascular compression whereas secondary HFS comprises all other causes of facial nerve damage. Clinical examination and imaging modalities such as electromyography (EMG) and magnetic resonance imaging (MRI) are useful to differentiate HFS from other facial movement disorders and for intraoperative planning. The standard medical management for HFS is botulinum neurotoxin (BoNT) injections, which provides low-risk but limited symptomatic relief. The only curative treatment for HFS is microvascular decompression (MVD), a surgical intervention that provides lasting symptomatic relief by reducing compression of the facial nerve root. With a low rate of complications such as hearing loss, MVD remains the treatment of choice for HFS patients as intraoperative technique and monitoring continue to improve.

Änderung von Dosis und Injektionsmuster der Botulinumtoxin-Langzeittherapie fazialer Dyskinesien

Rare information exists about comparative long-term observations of patients with facial movement disorders. This retrospective analysis deals with the course of different parameters of injection over the time. In this study we compared the development of long-term botulinum toxin treatments of patients with blepharospasm, hemifacial spasm and synkinesis. 80 patients (n=30 blepharospasm, n=31 hemifacial spasm, n=19 synkinesis), who had at least 10 consultations for BTA-injections, were included in the retrospective analysis. The development for each entity in total dosage, increase in the number of injection points and change in dosages for each point were evaluated. The over-all dosage in all 3 clinical disorders and for each single disease itself increased continuously over the time. The amount of injection points increased in the treatment of hemifacial spasm and synkinesis. The dosage per point increased most in blepharospasm between the 1. and 25. injection, but was distinctly lower in patients with hemifacial spasm and synkinesis. The increase in dosage in blepharospasm is therefore, in contrast to the other indications, mostly caused by an increase in dosage per point. In patients with hemifacial spasm and synkinesis the escalation of dosage is mainly caused by an increase of the number of injection points. These new aspects of the dynamic in the treatment with botulinum toxin enable the physician to understand better the dynamic of these diseases, to optimize treatment protocols.

Prevalence of chromosome 9 abnormalities among pediatric specimens

To perform cytogenetic analysis for children, especially newborns suspected for chromosome abnormalities. Peripheral blood or born marrow specimens were respectively cultured in proper media. Karyograms were analyzed following G-banding. Of 154 blood specimens, numerical chromosomal abnormalities were identified in 20 patients, which included 19 with trisomy 21. Structural aberrations were identified in 13 patients, among which chromosome 9 aberrations were seen in 6 cases. These included 3 inversions, 1 deletion, 1 insertion and 1 duplication. All aberrations were located in pericentromere region of chromosome 9 with clinical manifestations including congenital heart disease, peculiar facial appearance, paralysis, dysplasia and/or movement disorder. Chromosome polymorphisms were found in 20 patients, most of which had absence of satellites or variation of heterochromatin on chromosome 9. Of 10 bone marrow specimens from children suspected for acute leukemia, chromosome abnormalities were identified in 5 patients. Cytogenetic analysis is useful for children featuring multiple congenital abnormalities. Chromosome 9 abnormalities and their clinical relevance should attract more attention.

Developmental Venous Anomaly Responsible for Hemifacial Spasm

Hemifacial spasm (HFS) is a facial movement disorder characterized by involuntary, unilateral and intermittent contractions of the facial muscles. It is one of the syndromes related to neurovascular conflict, first described by Jannetta et al. in 1979. Typically, HFS is due to pulsatile compression by the anterior inferior cerebellar artery. We describe a rare case of left developmental venous anomaly in a 59-year-old man referred to us with a six-month history of left-sided HFS. We performed an MR study of the brain and cerebellopontine angles, which demonstrated a compression of the ipsilateral facial nerve by the developmental venous anomaly.

Blepharospasm and hemifacial spasm: Long-term treatment with botulinum toxin

IntroductionOur purpose is to describe the demographic, clinical and therapeutic characteristics of patients with blepharospasm (BS) and hemifacial spasm (HFS) during treatment with botulinum toxin type A (BtA). Patients and methodsRetrospective analysis of patients diagnosed with BS or HFS and treated with BtA in the Neurology Department at Complejo Asistencial de Segovia between March 1991 and December 2009 was carried out. ResultsDifferent variables were collected from 34 patients with BS and 55 with HFS, of whom 44.1% and 32.7% respectively had been undergoing treatment with BtA for more than 10 years. Elapsed time from symptom onset to the first visit was 24 months in the BS group and 59.7 months in the HFS group. Diagnosis was given during the first visit for 76.5% of the BS patients and 90.7% of the HFS patients. Patients were referred by their primary care centres in 34.6% of the cases with BS and in 77.6% of the cases with HFS. The most commonly used BtA preparation was BOTOX® in both groups, and there were no cases of primary or secondary resistance. The median dose of BtA was raised gradually in both groups, and the increase was statistically significant during the early years of treatment. The most common side effect was ptosis (47.1% in BS, 32.5% in HFS). ConclusionsBS and HFS are the most common facial movement disorders. The demographic and clinical characteristics and therapeutic findings from this study show that treatment with BtA is both effective and safe over the long term.