Neck Dystonia Research Articles

Navigating the social world with neck dystonia: An interpretative phenomenological analysis.

Neck dystonia is a neurological condition, characterised by involuntary movements of the neck muscles, causing twisted head positions and often pain and head tremor. Ten participants with neck dystonia were interviewed and the data was analysed using an interpretative phenomenological analysis approach. Three themes were constructed: (1) dismissed by others for having an unfamiliar condition; (2) negotiating a new social identity; and (3) managing the stigma of a visible condition. It is proposed that psychological support could benefit people with neck dystonia who experience difficulties arising from identity management and stigma. Systemic interventions, such as education campaigns, are also proposed to help address stigmatising attitudes.

Frequent Request of Injectable Biperiden in a Young Patient with Uncommon Neck Deviation and History of Neurodevelopmental Disorder

Introduction: Malingering is a differential diagnosis in the field of medical disorders, especially in the field of forensic medicine. In medicine, malingering is when a person imitates a medical or psychiatric disorder with external motivations to gain financial gain or avoid social or occupational duties. In some cases, diagnosing a medical or psychological condition from malingering can be challenging and difficult. In this case report, a patient with a history of multiple hospitalization, neurodevelopmental disorders, and intellectual disability requested to receive injectable Biperiden due to aggression, irritable mood, and neck deviation, and in order to receive it, he deliberately showed neck dystonia. This report aimed to discuss on a neuropsychiatric symptom, after which the patient requested a drug injection to resolve it, in order to differentiate possible diagnoses such as drug complication, factitious disorder, and functional neurological symptom disorder. On the other hand, during the recent searches of similar texts, conflicting results and suggestions have been presented.

Unraveling the Twist: Spatial Navigational Challenges in Cervical Dystonia.

Cervical dystonia (CD) is an intricate neurological condition with motor and nonmotor symptoms. These include disruptions in visual perception, self-orientation, visual working memory, and vestibular functions. However, the specific impact of CD on perceiving self-motion direction, especially with isolated visual or vestibular stimuli, remains largely unexplored. This study aimed to examine the effects of CD on linear motion perception, hypothesizing impaired heading discrimination in both vestibular and visual tasks, and that such deficits correlate with the disease severity. We employed a cutting-edge motion platform to precisely control whole-body linear motion. Through repeated two-alternative forced-choice tasks, we assessed vestibular heading direction discrimination. Participants observed dynamic star clouds in immersive virtual reality and indicated their perceived self-motion direction, evaluating visual heading direction discrimination. Sensitivity to direction variations and response accuracy errors were analyzed using robust Gaussian cumulative distribution psychometric functions. Heading perception is impaired in individuals with CD, particularly evident in vestibular heading discrimination. CD severity correlated with elevated thresholds for both vestibular and visual heading discrimination. Surprisingly, lateralized CD did not introduce bias in either system, suggesting widespread disruption over localized effects. Contrary to previous beliefs, our findings challenge the idea that CD-related heading discrimination issues mainly arise from peripheral vestibular effects. Instead, abnormal proprioceptive input from dystonic neck muscles introduces noise into the central mechanism integrating visual, vestibular, and proprioceptive signals. These insights into spatial navigation deficits have implications for future CD research. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

Clinical and Pathological Characterization of VPS16 Dystonia (P11-11.005)

<h3>Objective:</h3> To expand the clinical, radiologic and pathologic understanding of VPS16 related dystonia. <h3>Background:</h3> Variants in VPS16 have been associated with isolated dystonia in 35 cases from Chinese and European cohorts, including report of brainstem signal change on MRI. <h3>Design/Methods:</h3> We describe clinical features in 10 additional individuals with isolated dystonia and VPS16 variants, including neuroimaging on a subset and pathology in one, and perform pooled analysis with published cases. <h3>Results:</h3> 80% were men, mean age onset was 14.1 years (range 5–30), and mean age at exam was 35.89 years (range 11–73). Four began with arm, 3 with leg, and 3 with neck dystonia. Only one remained focal (arm); others became generalized (7), multifocal (1) or segmental (1). Brachial involvement was present in 90%, with 80% crural, 70% cranial/bulbar, and 50% cervical involvement. Two individuals underwent deep brain stimulation and one thalamotomy. Four cases were related, and five others had family history. MRI was available in two cases and demonstrated red nucleus and cerebral peduncle T2 hypointensity. Neuropathologic evaluation in one case (post bilateral GPi DBS) demonstrated asymmetric severe gliosis and marked neuronal loss of the left subthalamic nucleus with optically empty vacuoles and much less right-sided involvement. Pooled analysis with 34 additional published cases showed 62.22% male and average onset of 14.53 years (range 3–50). Onset site was 20.45% cranial/bulbar, 54.55% limb, and 36.36% axial (cervical or trunk); 75% of cases exhibited cranial/bulbar symptoms, 90.9% limb and 81.82% axial involvement. <h3>Conclusions:</h3> Expansion of known cases of VPS16 dystonia further support that it is a childhood-or adolescent-onset disorder, typically with limb or cervical onset that often spreads to the arm and leg. Additional histopathologic and metabolomic evaluation is underway to better understand the lysosomal and endolysosomal pathophysiology that may contribute to both vacuolization in the subthalamic nucleus as well as T2 brainstem hypointensities. <b>Disclosure:</b> The institution of Dr. Pullman has received research support from Empire Clinical Research Investigator Program. The institution of Ms. Raymond has received research support from NIH. Dr. Molofsky has nothing to disclose. Dr. Lubarr has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for applied therapeutics. Dr. Leaver has nothing to disclose. Roberto Ortega has nothing to disclose. Ms. Rawal has nothing to disclose. The institution of Dr. Bennett has received research support from Prevail. Mr. Bushnik has nothing to disclose. Dr. Khorsandi has nothing to disclose. Fedor Panov has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for neuropace. Fedor Panov has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for zimmer biomet. Jean Paul Vonsattel has nothing to disclose. The institution of Dr. Ozelius has received research support from NIH. Dr. Ozelius has received intellectual property interests from a discovery or technology relating to health care. The institution of Dr. Saunders-Pullman has received research support from NIH, Bigglesworth Family Foundation, Empire Clinical Research Investigatory Program. The institution of Dr. Bressman has received research support from Michael J Fox Foundation . The institution of Dr. Bressman has received research support from NIH .

Vibro-Tactile Stimulation as a Non-Invasive Neuromodulation Therapy for Cervical Dystonia: A Case Study.

Cervical dystonia (CD) is a type of focal dystonia that is characterized by involuntary neck postures. The underlying neurophysiology mechanism of CD is unknown, but there is increasing empirical evidence that motor deficits of CD are associated with somatosensory and proprioceptive deficits in the upper limb area. Vibro-tactile stimulation (VTS) is a non-invasive somatosensory stimulation approach where afferent signals from the vibrated muscle and tactile mechanoreceptors modulate cortical activity. Previous studies have shown that VTS could be an effective neuromodulation therapy for treating laryngeal dystonia. This proof-of-concept study examined the effect of VTS on alleviating the involuntary cervical muscle contractions in a female participant with intermittent torticollis. VTS was applied sequentially on four neck positions: bilateral trapezius (TRP) and bilateral sternocleidomastoid (SCM). Each VTS site was vibrated continuously for six minutes. The kinematics and underlying neck muscle activities during dystonic neck movements were examined with acceleration and surface electromyography (sEMG). To quantify the efficacy of VTS, two acceleration features and one sEMG feature were derived: (1) number of acceleration peaks per minute; (2) peak amplitude of acceleration (PAA); (3) change in power of sEMG after VTS. The frequency of intermittent dystonic neck movements decreased by 60% after VTS. In addition, PAA during dystonic episodes was drastically reduced after VTS when compared to baseline. Third, the effectiveness of VTS in alleviating dystonic muscle spasms depended on the site of vibration. For this participant, the left trapezius muscle was shown as the optimal vibration site reducing sEMG signal power by 15% across all recorded muscles. This case study offered preliminary insight into the assumed effectiveness of neck muscle VTS as a treatment for CD. Our participant experienced pain relief after VTS with measured improvements reflected by electrophysiological and kinematic data. A systematic study with a larger sample size is required in the future to validate the effectiveness of VTS for treating symptoms in CD.

A 65-year old female with movement disorder

Background: We reported a 65-year-old woman presented with dysarthria, chorea, facial and neck dystonia.

Lessons learned from the syndrome of oculopalatal tremor.

The syndrome of oculopalatal tremor (OPT) featuring the olivo-cerebellar hypersychrony leads to disabling pendular nystagmus and palatal myoclonus. This rare disorder provides valuable information about the motor physiology and offers insights into the mechanistic underpinning of common movement disorders. This focused review summarizes the last decade of OPT research from our laboratory and addresses three critical questions: 1) How the disease of inferior olive affects the physiology of motor learning? We discovered that our brain's ability to compensate for the impaired motor command and implement errors to correct future movements could be affected if the cerebellum is occupied in receiving and transmitting the meaningless signal. A complete failure of OPT patients to adapt to change in rapid eye movements (saccades) provided proof of this principle. 2) Whether maladaptive olivo-cerebellar circuit offers insight into the mechanistic underpinning of the common movement disorder, dystonia, characterized by abnormal twisting and turning of the body part. We discovered that the subgroup of patients who had OPT also had dystonia affecting the neck, trunk, limbs, and face. We also found that the subjects who had tremor predominant neck dystonia (without OPT) also had impaired motor learning on a long and short timescale, just like those with OPT. Altogether, our studies focused on dystonia suggested the evidence for the maladaptive olive-cerebellar system. 3) We discovered that the OPT subjects had difficulty in perceiving the direction of their linear forward motion, i.e., heading, suggesting that olivo-cerebellar hypersynchrony also affects perception.

Management of cervical dystonia with dry needling

Introduction Cervical dystonia is characterized by involuntary muscle contractions of the neck and abnormal head positions that affect daily life activities. Botulinum toxin treatment continues to be the first choice treatment for most types of focal dystonia. Unfortunately, botulinum toxins are expensive and have limitations. Dry needling has been used widely to relieve muscle spasms and restore its length. Case report A 34 years-old man developed severe axial neck dystonia gradually. His symptoms began approximately 6 months earlier with painless pulsing in his neck followed by involuntary neck movement and rotated of the neck with spasm. There was severe right head rotation and laterocollis with mild retrocollis. Head CT-scan was normal but cervical spine x ray showed retrolisthesis and narrowing intervertebral disc gap of C4-C5 and C6-C7. We used the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) to monitor the progress of dry needling in this patient. Before dry needling was performed, the TWSTRS was 47 and after 5 times dry needling in one week interval, the score became 2 and persisted at 6 months reassessment. Dry needling was done on the myotendinous junction and/or muscle belly of ipsilateral sternocleidomastoideus muscle, spinalis capitis muscle and upper trapezius muscle. Conclusions Few treatment options are available and dry needling may be useful in facilitating a rapid reduction in disability and severity. However, management using dry needling technique may require further assessment and re-needling after 3–6 months.

Alternating flexed-extended posturing in progressive supranuclear palsy.

A 69-year-old man who had been bedridden in nursing home because of a 5- year history of progressive supranuclear palsy (PSP) was admitted due to aspiration pneumonia. Besides neck dystonia in extension, he showed “alternating flexed–extended posturing”, in which the arm was flexed on one side and extended on the other. Magnetic resonance imaging of the brain revealed global cerebral atrophy that predominantly affected the cortex and midbrain. The mechanisms of complex posturing in late-stage PSP may sometimes be related to decortication and decerebration as well as dystonia, and “alternating flexed– extended posturing” might be one of the phenotypes of pathological progression in PSP.

Progressive supranuclear palsy as differential diagnosis of Parkinson's disease in the elderly

IntroductionProgressive supranuclear palsy (PSP) is a syndrome characterized by progressive parkinsonism with early falls due to postural instability, typically vertical gaze supranuclear ophthalmoplegia, pseudobulbar dysfunction, neck dystonia and upper trunk rigidity as well as mild cognitive dysfunction. Progressive supranuclear palsy must be differentiated from Parkinson's disease taking into account several so-called red flags. Materials and methodsWe report a case series hallmarked by gait abnormalities, falls and bradykinesia in which Parkinson's disease was the initial diagnosis. ResultsDue to a torpid clinical course, magnetic resonance imaging (MRI) was performed demonstrating midbrain atrophy, highly suggestive of progressive supranuclear palsy. ConclusionThe neuroradiological exams (magnetic resonance imaging, single photon emission computer tomography, and positron emission tomography) can be useful for diagnosis of PSP. Treatment with levodopa should be considered, especially in patients with a more parkinsonian phenotype.

Sensory trick efficacy in cervical dystonia is linked to processing of neck proprioception

BackgroundMuscle vibration activates muscle spindles and when applied over posterior neck muscles during stance modulates global body orientation. This is characterised by a tonic forward sway response that is reportedly diminished or absent in patients with idiopathic cervical dystonia. ObjectiveTo investigating the impact of the sensory trick on vibration-induced postural responses. Methods20 patients with idiopathic cervical dystonia and a sensory trick, 15 patients without a trick, and 16 healthy controls were recruited. Neck muscle vibration was applied bilaterally over the upper trapezius under three different conditions: 1) Quiet standing; 2) standing while performing the trick (or trick-like movement in non-responders); 3) standing while elevating the flexed arm without touching any part of the body. Centre of pressure position and whole-body orientation in the sagittal plane were analysed. ResultsPatients with a sensory trick responded similarly to healthy controls: neck muscle vibration led to an initial forward sway of the body that slowly increased during the prolonged vibration for all three conditions. This response was mainly mediated by ankle flexion. In patients without a trick, the initial sagittal sway was significantly reduced in all three conditions and the later slow increase was absent. Performance of the trick did not have an effect on any aspect of the response in either cervical dystonia group. ConclusionsThe whole-body response to neck vibration in cervical dystonia differs depending on the effectiveness of the sensory trick to alleviate the dystonic neck posture. Variable pathophysiology of proprioceptive processing may be the common factor.

Changes in sensorimotor network activation after botulinum toxin type A injections in patients with cervical dystonia: a functional MRI study

Botulinum toxin type A (BoNT) is considered an effective therapeutic option in cervical dystonia (CD). The pathophysiology of CD and other focal dystonias has not yet been fully explained. Results from neurophysiological and imaging studies suggest a significant involvement of the basal ganglia and thalamus, and functional abnormalities in premotor and primary sensorimotor cortical areas are considered a crucial factor in the development of focal dystonias. Twelve BoNT-naïve patients with CD were examined with functional MRI during a skilled hand motor task; the examination was repeated 4 weeks after the first BoNT injection to the dystonic neck muscles. Twelve age- and gender-matched healthy controls were examined using the same functional MRI paradigm without BoNT injection. In BoNT-naïve patients with CD, BoNT treatment was associated with a significant increase of activation in finger movement-induced fMRI activation of several brain areas, especially in the bilateral primary and secondary somatosensory cortex, bilateral superior and inferior parietal lobule, bilateral SMA and premotor cortex, predominantly contralateral primary motor cortex, bilateral anterior cingulate cortex, ipsilateral thalamus, insula, putamen, and in the central part of cerebellum, close to the vermis. The results of the study support observations that the BoNT effect may have a correlate in the central nervous system level, and this effect may not be limited to cortical and subcortical representations of the treated muscles. The results show that abnormalities in sensorimotor activation extend beyond circuits controlling the affected body parts in CD even the first BoNT injection is associated with changes in sensorimotor activation. The differences in activation between patients with CD after treatment and healthy controls at baseline were no longer present.

Dystonic neck muscles show a shift in relative autospectral power during isometric contractions

ObjectiveTo identify effects of a deviant motor drive in the autospectral power of dystonic muscles during voluntary contraction in cervical dystonia patients. MethodsSubmaximal (20%) isometric head-neck tasks were performed with the head fixed, measuring surface EMG of the sternocleidomastoid, splenius capitis and semispinalis capitis in CD patients and controls. Autospectral power of muscle activity, and head forces was analyzed using cumulative distribution functions (CDF). A downward shift between the theta/low alpha-band (3–10Hz) and the high alpha/beta-band (10–30Hz) was detected using the CDF10, defined as the cumulative power from 3 to 10Hz relative to power from 3 to 30Hz. ResultsCDF10 was increased in dystonic muscles compared to controls and patient muscles unaffected by dystonia, due to a 3–10Hz power increase and a 10–30Hz decrease. CDF10 also increased in patient head forces. ConclusionsSubmaximal isometric contractions with the head fixed provided a well-defined test condition minimizing effects of reflexive feedback and tremor. We associate shifts in autospectral power with prokinetic sensorimotor control. SignificanceAnalysis of autospectral power in isometric tasks with the head fixed is a promising approach in research and diagnostics of cervical dystonia.

A practical approach to the patient presenting with dropped head

Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions...

EP 9. GPi Deep Brain Stimulation for the treatment of status distonicus in tardive dystonia

Introduction Dystonia is a movement disorder due to sustained muscle contractions that cause twisting and repetitive movements conditioning abnormal postures. Tardive dystonia generally follows long treatment with neuroleptics. An extreme condition called status distonicus may even be life threatening, determining spasm of axial musculature leading to respiratory or cardiac arrest. Bilateral pallidotomy provided significant benefit to dystonic symptoms in some patients; moreover, in recent years, pallidotomy has been replaced from pallidal DBS; pallidal DBS is particularly effective both in primitive generalized dystonia and in tardive dystonia consequent to neuroleptics. Objectives To report DBS for the treatment of severe iatrogenic dystonia refractory to medical treatment. Patient and methods A 19 years-old boy affected by severe behavior disorder was treated with neuroleptic drugs (haloperidole). After three years of treatment, appeared severe neck and axial dystonia with initial involvement of the extremities. The change in the pharmacological treatment led to an initial improvement, followed by a progressive and relentless worsening and loss of motor autonomy. The patient also experimented severe dysphagia and several episodes of ab-ingestis pneumonia. Anticholinergic and dopaminergic treatment failed to improve symptoms. The patient progressively felt in a generalized status distonicus. At admission, F-M DRS was 74. For this potentially threatening for life condition, he was candidated for bilateral GPi DBS. After stereotactic localization of ventro-mesial-posterior part of Gpi on volumetric isotropic T1 MRi coupled with Shaltenbrandt & Wahren atlas, bilateral DBS was performed in general sedation, with intraoperative neurophysiology. A couple of quadripolar electrodes were inserted and immediately connected with IPG (Activa RC Medtronic). Results Stimulation started during postoperative day 2. After initial adjustment of the stimulation parameters we appreciated a clear reduction in the intensity and frequency of dystonic spasms, without surgical complication or adverse effects. At discharge the patient was able to walk without help, no dysphagia has been complained for and dystonic spasms were absent. Stimulation parameters were settled as following: left GPi 1- case positive, 2.0 V, 210 μs, 130 Hz; right GPi 9-case positive, 2.0 V, 210 μs, 130 Hz. At one year follow-up F-M DRS is 20. Conclusion The role of DBS in secondary dystonia is still debated because of several failures; important factors in the surgical outcome are: the etiology of dystonia, the absence of skeletal deformity, younger age at surgery and shorter duration of disease. Another topic is the time of early efficacy of DBS, very varying among different reports, but generally considered in the span of weeks or months. Tardive dystonia, due to neuroleptic therapy, seems to be affected from DBS, better than other secondary forms. GPi DBS has also been described to be effective in the treatment of status distonicus and it is considered the treatment of choice in the acute management of this life-threatening condition. In this case we found a striking improvement in F-M DRS, since the first days, with prompt resolution of status distonicus. We suggest the indication to acute treatment with DBS in case of status distonicus in course of tardive dystonia.

A retrospective analysis of triptan and dhe use for basilar and hemiplegic migraine.

Patients with basilar migraine (BM) and hemiplegic migraine (HM) have been excluded from triptan and DHE clinical trials due to a potential risk of ischemic vascular events, and the FDA mandates that package labeling state that they are contraindicated in BM and HM. The objective of this study was to demonstrate that triptans and DHE can be used for the abortive treatment of BM and HM without significant adverse ischemic vascular events. A retrospective chart review of patients with BM features or HM who received acute abortive treatment with either triptans or DHE was conducted at 4 headache centers to assess the frequency of ischemic vascular events after administration. The diagnoses of BM or HM were made by headache specialists based on The International Classification of Headache Disorders, 2nd edition (ICHD-II). Searchable terms included BM, vertigo, dysarthria, diplopia, hemiplegia/hemiparesis, facial droop, weakness, confusion, altered consciousness, confusion, ataxia, and aphasia, as well as all triptans or DHE. The study included 67 patients with BM features and 13 patients with HM. Among those receiving triptans, 40 were in the BM group and 5 were in the HM group. Among those receiving DHE, 27 were included in the BM group and 8 were in the HM group. No side effects of stroke or myocardial infarction were reported. In the triptan group, 5 patients reported adverse effects that included GI upset, rash, neck dystonia, nightmares, and flushing. In the DHE group, 5 patients had adverse events that included chest tightness, dystonic reaction, transient asymptomatic anterior T wave inversion, and agitation. In this retrospective study, triptans and DHE were used with no reported, subsequent acute/subacute ischemic vascular events for the abortive treatment of migraines with basilar and hemiplegic-type features. Although the small sample sizes generated theoretical statistical event rates of 4.5% for BM and 23% for HM, there has been no clear evidence that BM and HM carry an actual elevated risk for vascular events compared with migraine with aura.

Behavioural interventions for people living with adult-onset primary dystonia: a systematic review.

BackgroundPrimary dystonia is a chronic neurological movement disorder that causes abnormal muscle movements. Pain and emotional distress may accompany these physical symptoms. Behavioural interventions are used to help people with long term conditions improve their quality of life. Little is known about behavioural interventions applied to Dystonia. We report a systematic review of studies reporting current evidence of behavioural interventions for people with primary dystonia.MethodsWe did systematic searches of Medline, PsycINFO, AHMED and CINAHL. We assessed the methodological quality of included studies using a risk of bias tool. Any disagreements were resolved by liaising with an independent rater. Physiological outcomes such as dystonia severity and psychological outcomes such as sleep and depression were selected on the basis that primary dystonia causes motor and non-motor symptoms. No time limit was placed on the searches. A narrative synthesis of the results is presented.ResultsOf 1798 titles and abstracts screened, 14 full articles were retrieved and inclusion and exclusion criteria applied. Of these a final nine were eligible for the review (N = 73). Only two were Randomised Controlled Trials (RCTs). Using the Movement Disorders Society (MDS) dystonia classification, that was published after this work started, all of the included studies were of idiopathic adult onset focal dystonia without associated features. These included: blepharospasm (eye dystonia) (N = 1), cervical dystonia (neck dystonia) (N = 2), writer’s cramp (hand dystonia) (N = 3) and the yips (N = 3). No studies reported on dystonia that affects two or more body regions. Studies reported good adherence and response rates to treatment. Physiological and psychological improvements were noted in all studies at weekly, monthly and yearly follow-ups. Caution should be taken when interpreting the results because of the scarcity of RCTs identified, use of small sample sizes, and inappropriate statistical methods.ConclusionWe identified few studies; mainly of poor methodological quality that all studied a focal dystonia. It is not possible to draw firm conclusions. Nevertheless, the data suggests that a combined behavioural therapy approach including relaxation practice for people with idiopathic adult onset focal dystonia merits further investigation.

Spectrum of Abnormal Movement in a Cohort of Neuro-Wilson Patients with Radiological Associations

Background: Disorders of movement are important features of Neuro-Wilson’s disease (NWD) and their recognition helps in early diagnosis. We studied the various types of movement disorders including any novel phenomenology found in our cohort of NWD, along with radiological correlations. Method: A total of 129 consecutive patients of WD (M:F) were examined in Movement Disorders clinic of a tertiary care neurological institute at Kolkata, India. A semi-structured interview and examination determined the various types of movement disorders detected, after proper informed consent. Neuro-imaging (MRI of 1.5 Tesla system) was carried out whenever possible. Results: The common movement disorders were dystonia (91.8%), Parkinsonism (83.72%), and tremor (53.49%). Others were movement induced focal myoclonus (12.4%), ataxia (11.63%), choreo-athetosis (15.5%). The less frequent movement disorders were akathisia (5.2%) and tics disorder (5.42%) and oromandibular dyskinesias (2.33%). MRI lesions were found to be associated with jaw opening dystonia (caudate), neck dystonia (putamen and pons), truncal dystonia (caudate, globus pallidus and cortical atrophy), appendicular dystonia (caudate and putamen), Parkinsonism (mid-brain), postural tremor (caudate and putamen), tics and akathisia (mid-brain and pons in both). Conclusion: WD is associated with a variety of common movement disorders such as dystonia, Parkinsonism and tremor. The less frequent movement disorders were focal myoclonus, stereotypes, tics disorders and orofacial dyskinesia . Radiological lesions can be found in association with majority of the movement disorders except in few cases where functional imaging studies may help.

Anesthetic management of a patient with severe neck dystonia during MRI.

Anesthetic management of a patient with severe neck dystonia during MRI.

PP12.5 – 2798: DBS-implanted PKAN cases: Two clinical observations

Introduction Pantothenate kinase-associated neurodegeneration (PKAN) is caused by the mutation of the pantothenate kinase 2 (PANK2) gene. Medical therapy such as anti-cholinergic agents, benzodiazepines, barbiturates, and baclofen is commonly used for dystonia, but without much effect. We here discuss deep brain stimulation as a promising surgical method for the treatment of dystonia. Purpose We aim to present the responses to deep brain stimulation (DBS) treatment in two patients with PKAN. Method Two PKAN cases (a 10-year-old girl and an 18-year-old boy) were included in this study. They had typical clinical and neuroimaging findings, as well as positive PANK2 mutation. Bilateral DBS electrodes were placed into the internal globus pallidus region of both the patients. Burke-Fahn-Marsden scale were used for clinical evaluation. Results The female patient, who had developed status dystonicus throughout the extremities and her trunk, was refractory to benzodiazepine and curare infusion, but recovered on the tenth day following DBS operation. After one month, the mother was able to easily provide care for her. The child remained stable and did not have any episodes of status dystonicus during the 27-month follow-up. The male patient had had feeding and swallowing problems accompanied by aspiration due to severe oromandibular dystonia, as well as bilateral arm and neck dystonia prominent on the left side. Following the DBS operation, he started to swallow without any difficulty. He was stable during the 12-month follow-up period. Conclusion DBS may increase the quality of life of drug-resistant dystonic patients and may prevent them from being hospitalized in intensive care units. Large case series are needed to thoroughly evaluate the effect of DBS on PKAN patients. Burke-Fahn-Marsden can be used to evaluate the patients, however other scales can be added for the clinical details.