Botulinum toxin type A outcomes in infants with refractory congenital muscular torticollis.

PURPOSE: The aim of this study was to determine the effectiveness of botulinum toxin type A (BoNT-A) injections in infants with congenital muscular torticollis (CMT) who were refractory to conservative management. METHODS: This was a retrospective study in which all subjects included were seen between 2004 and 2013 and were deemed appropriate for BoNT-A injections. A total of 291 patients were reviewed for inclusion in the study, and 134 patients met the inclusion criteria. Each child was injected with 15-30 units of BoNT-A into each of the following muscles: ipsilateral sternocleidomastoid, upper trapezius, and scalene muscles. The key outcome and variable measurements analyzed included age at time of diagnosis, age at time of initiation of physical therapy, age at time of injection, total number of injection series utilized, muscles injected, and degrees of active and passive cervical rotation and lateral flexion pre- and post-injection. A successful outcome was documented if a child could achieve 45° of active lateral flexion and 80° of active cervical rotation post-injection. Secondary variables including sex, age at time of injection, number of injection series utilized, surgery required, adverse effects of botulinum toxin, presence of plagiocephaly, side of torticollis, orthosis used, presence of hip dysplasia, skeletal anomalies, complications during pregnancy or birth, and any other pertinent information regarding the delivery were also measured. RESULTS: Based on this criteria, 82 children (61%) had successful outcomes. However, only four of the 134 patients required surgical correction. CONCLUSION: BoNT-A may be an effective and safe method for treatment in refractory cases of congenital muscular torticollis.

Development of a patient journey map for people living with cervical dystonia.

BACKGROUND: Patient journey maps are increasingly used as a tool that enables healthcare providers to refine their service provision to best meet patient needs. We developed a cervical dystonia patient journey map (CDPJM) that describes the holistic patient experience from pre-diagnosis through to long-term treatment. METHODS: The CDPJM was developed in 2 stages; a patient survey (open questions and multichoice) of 15 patients with CD was conducted to inform the design of the CDPJM, which was then refined and validated by an expert-patient focus group. RESULTS: Qualitative analysis of the patient survey supported five key stages of the patient journey: symptom onset, diagnosis and therapeutic relationship with healthcare professionals, initiation of care for CD, start of CD treatment, and living with treated CD. Following symptom onset, survey respondents described having multiple visits to their family doctor who prescribed strong pain killers and muscle relaxants and referred their patient to up to 10 different specialists for diagnosis. Over half (53.3%) of respondents had received ≥ 1 misdiagnosis. Respondents reported relief at having a diagnosis but a lack of understanding of the prognosis and treatment options; 46.7% said their neurologist did not spend enough time addressing their concerns. Survey respondents reported using a variety of alternative sources of information, including the internet (86.7%), self-help groups (66.7%) and information leaflets provided by health care professionals (60.0%). While botulinum toxin (BoNT) was consistently discussed as the main treatment option, some neurologists also mentioned physiotherapy, counselling, and other complementary approaches. However, patients were often left to seek complementary services themselves. Patients reported a 'rollercoaster' of relief with BoNT treatment with symptoms (and subsequent impact on daily life) returning towards the end of an injection cycle. "When BoNT works well I can return to an almost normal life … when the injections stop working so well, I have to rest more and avoid going to work and experience life restrictions." CONCLUSIONS: We present the first patient journey map for CD that can be used to guide local service mapping and to compare current provision with what patients say they want and need.

Overview of DaxibotulinumtoxinA for Injection: A Novel Formulation of Botulinum Toxin Type A.

Botulinum toxin type A (BoNTA) products are widely used for therapeutic and aesthetic indications, but there is a need for longer-lasting treatments that maintain symptom relief between injections and reduce the frequency of re-treatment. DaxibotulinumtoxinA for Injection (DAXI) is a novel BoNTA product containing highly purified 150-kDa core neurotoxin and is the first to be formulated with a proprietary stabilizing excipient peptide (RTP004) instead of human serum albumin. The positively charged RTP004 has been shown to enhance binding of the neurotoxin to neuronal surfaces, which may enhance the likelihood of neurotoxin internalization. DAXI produces robust, extended efficacy across both aesthetic and therapeutic indications. In an extensive glabellar lines clinical program, DAXI showed a high degree of efficacy, a consistent median time to loss of none or mild glabellar line severity of 24 weeks, and median time until return to baseline of up to 28 weeks. In adults with cervical dystonia, DAXI at 125 U and 250 U significantly improved Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total scores, with a median duration of efficacy of 24 and 20 weeks, respectively, which compares favorably with the 12-14 weeks' duration reported for approved BoNTA products. Overall, DAXI was well tolerated, and the consistent extended duration of effect suggests that DAXI has the potential to improve the management of both aesthetic and therapeutic conditions.

Botulinum toxin is used to block the nerve signals that cause muscles to contract. Products containing botulinum toxin are commonly given by injection to treat muscle spasms (such as cervical dystonia, a painful condition where the neck muscles contract involuntarily) and for cosmetic treatment of frown lines. However, the effects of the currently approved botulinum toxin products typically wear off about 3­4 months after injection and so the injections must be repeated regularly. A new product called DAXI (DaxibotulinumtoxinA for Injection) has been developed. In this product, the botulinum toxin is formulated with a unique protein (called RTP004) that has been designed to help deliver the botulinum toxin to the nerve cells. Research suggests that the RTP004 protein in DAXI adheres the botulinum toxin to the nerves close to the injection site, potentially making its effect last longer. To date, DAXI has been studied in over 3800 patients. The studies have shown that DAXI is effective for treating neck spasms (cervical dystonia) and for reducing the appearance of frown lines. Importantly, the effects of DAXI lasted up to 6 months, which is longer than seen with other botulinum toxin products. The side effects seen with DAXI are consistent in nature and frequency with those seen with other botulinum toxin products. These findings suggest that DAXI can improve both medical and cosmetic treatments due to its longer-lasting effect.

The Effectiveness and Safety of Botulinum Toxin Injections for the Treatment of Congenital Muscular Torticollis.

OBJECTIVE: Botulinum toxin have been used to treat congenital muscular torticollis for the last 25 years; however, few studies have been published with only limited cases and short-term follow-up. The aim of the present study is to systematically review the effectiveness and safety of botulinum toxin injections for congenital muscular torticollis by analyzing these relevant literatures. METHODS: The authors searched PubMed, Web of Science, EMBASE, Cochrane Library, China Biology Medicine, for all articles about botulinum toxin injections for the congenital muscular torticollis. The MINORS evaluation tool was adopted to evaluate the quality of these studies. Meta-analysis calculations are made by R software 3.6.2. RESULTS: This study search involved strict inclusion criteria and targeted data collection. Ten studies were included, with a total of 411 patients, comprising 1 non-randomized experimental study and 9 cases or case series. The results of our meta-analysis of single rate showed that the overall effective rate of botulinum toxin for congenital muscular torticollis was 84% (95% confidence interval [CI] 67%-96%). After botulinum toxin treatment, the conversion rate to surgery was 9% (95% CI 4%-22%), and the adverse reaction rate was 1% (95% CI 0%-3%). The most common adverse reactions among these included studies involve injection site erythema and transient dysphagia. CONCLUSION: Current evidence shows that botulinum toxin injections for the treatment of congenital muscular torticollis is safe and effective, with few serious adverse reactions. Further well-designed, larger randomized trials are warranted.

The effect of cognitive task on postural stability in cervical dystonia / O efeito da tarefa cognitiva sobre a estabilidade postural na distonia cervical

ABSTRACT Background: Cervical dystonia (CD) is the most common form of focal dystonia. It is not known exactly whether abnormal head postures in cervical dystonia cause balance problems. Dual-tasking is a common every-day life situation. Objective: We aimed to evaluate postural stability (PS) in patients with CD and the effect of cognitive task on PS. As a secondary aim, we evaluated the effect of onabotulinum toxin A (BoNT) injection on PS. Methods: A total of 24 patients with CD who were on BoNT treatment for at least one year and 23 healthy controls were included. Posturographic analyses were carried out in all the subjects on static posturography platform under four different conditions: eyes open, eyes closed, tandem stance and cognitive task. In patients, posturographic analysis was carried out just before the BoNT injections and was repeated four weeks later. Results: Before treatment, the anterior-posterior sway was significantly higher in CD patients with the eyes open condition compared to the controls (p=0.03). Cognitive task significantly affected several sway velocities. Tandem stance significantly affected many sway parameters, whereas the eyes closed condition did not. After treatment, only two parameters in tandem stance and one in cognitive task improved within the patient group, in a pairwise comparison. Conclusions: Postural control is impaired in CD patients probably due to the impaired proprioceptive and sensorimotor integration. In reference to dual task theories possibly due to divided attention and task prioritization, cognitive dual-task and harder postural task disturbes the PS in these patients.

RESUMO Introdução: A distonia cervical (DC) é a forma mais comum de distonia focal. Não se sabe exatamente se posturas anormais da cabeça na DC causam problemas de equilíbrio. A execução de duas tarefas simultaneamente é situação comum da vida cotidiana. Objetivo: Avaliar a estabilidade postural (EP) em pacientes com DC e o efeito da tarefa cognitiva na EP. Como objetivo secundário, avaliamos o efeito da toxina onabotulínica A (BoNT) na EP. Métodos: Foram incluídos 24 pacientes com DC em tratamento com BoNT por pelo menos um ano e 23 controles saudáveis. As análises posturográficas foram realizadas em todos os sujeitos na plataforma de posturografia estática sob quatro condições diferentes: olhos abertos, olhos fechados, postura tandem e tarefa cognitiva. Nos pacientes, a análise posturográfica foi realizada imediatamente antes das injeções de BoNT e após quatro semanas. Resultados: Antes do tratamento, a oscilação ântero-posterior era significativamente maior nos pacientes com DC com os olhos abertos quando comparados aos controles (p=0,03). A tarefa cognitiva interferiu significativamente nas velocidades de oscilação. A postura tandem afetou significativamente muitos parâmetros de oscilação, enquanto a condição de olhos fechados não. Após o tratamento, apenas dois parâmetros na posição tandem e um na tarefa cognitiva melhoraram no grupo de pacientes. Conclusões: O controle postural é prejudicado em pacientes com DC, provavelmente devido à comprometida integração proprioceptiva e sensório-motora. Em referência às teorias de dupla-tarefa, possivelmente devido à atenção dividida e à priorização de tarefas, a dupla-tarefa cognitiva e a tarefa postural mais difíceis perturbam o EP nesses pacientes.

Refractory Open Jaw Oromandibular Tardive Dystonia with a Sensory Trick, Treated with Botulinum Toxin: A Case Report.

Jaw-opening oromandibular dystonia (O-OMD) is a clinical subtype of OMD, commonly resistant to treatment. Here, we report a distinct case of tardive O-OMD with a characteristic sensory trick, successfully treated with high-dose botulinum toxin (BTX) injection. A 34-year-old male patient presented with involuntary jaw opening, tongue protrusion, dysarthria, and mild cervical dystonia. The patient reported improved abilities to talk and close his mouth after putting something, like a cigarette, between his teeth. After an unsuccessful treatment with anticholinergic medications, the patient received electromyography-guided BTX injection to the lateral pterygoids (through an extraoral approach), sternocleidomastoids, trapezius, tongue, and platysma muscles. Following the injection, the patient reported marked improvements in his ability to talk and close his mouth without using his sensory trick. One month later, we detected a 58.2% improvement in the Abnormal Involuntary Movement Scale score. Therefore, high-dose BTX injection may be an effective alternative in refractory O-OMD.

Botulinum Toxin Injection for Lower Face and Oral Cavity Raynaud Phenomenon After Mandibulectomy, Free Fibula Reconstruction, and Radiation Therapy.

Isolated lingual and lower face Raynaud phenomenon without primary Raynaud of the digits is a very rare condition associated with chemoradiation therapy (RT) in previous reports. The condition, which more commonly presents in patients with a history of Raynaud disease, is often self-limiting, but vasodilating agents and steroids have been suggested as possible treatment options. Spasmodic torticollis is a different, more common entity, also associated with history of RT or previous head and neck surgery. We present a rare case of a patient who developed Raynaud phenomenon of the lower face and tongue in the presence of spasmodic torticollis after mandibulectomy and free fibula reconstruction followed by RT to the oral cavity and neck. Possible causes, pathophysiologic mechanisms and treatment options are discussed. This is the first report of botulinum toxin treatment of isolated secondary Raynaud phenomenon of the lower face and tongue.

A 500 U/2 mL dilution of abobotulinumtoxinA vs. placebo: randomized study in cervical dystonia.

Purpose/aim: AbobotulinumtoxinA (Dysport®, Ipsen Biopharmaceuticals, Inc., Basking Ridge, NJ, USA) is an acetylcholine release inhibitor and a neuromuscular blocking agent. The United States prescribing information for abobotulinumtoxinA previously indicated only one dilution for cervical dystonia: 500 U/1 mL. Clinical trial data supporting a larger volume with a 500 U/2 mL dilution would offer clinicians flexibility with injection volume to better meet patient needs. MATERIALS AND METHODS: We conducted a 12-week, phase 3b, multicenter, randomized, double-blind, placebo-controlled trial (NCT01753310). Adult subjects with a primary diagnosis of cervical dystonia were randomized (2:1) to receive a single injection of either abobotulinumtoxinA, 500 U/2 mL dilution, or placebo. The primary efficacy endpoint was changed from baseline in Toronto Western Spasmodic Torticollis Rating Scale total score at Week 4. RESULTS: A total of 134 subjects (abobotulinumtoxinA, n = 89; placebo, n = 45) were randomized (intent-to-treat population) and 129 (abobotulinumtoxinA, n = 84; placebo, n = 45) completed the Week 4 primary endpoint evaluation (modified intent-to-treat population). In the modified intent-to-treat population, subjects receiving abobotulinumtoxinA experienced significantly greater changes from baseline versus placebo on the primary endpoint (weighted overall treatment difference -8.3, P < 0.001). The most common treatment-emergent adverse events (TEAEs) were dysphagia, muscle weakness, neck pain and headache. Overall, TEAEs were consistent with those reported in the abobotulinumtoxinA prescribing information (1 mL dilution) for cervical dystonia patients. CONCLUSIONS: This trial provides evidence that a 500 U/2 mL dilution is an effective treatment for cervical dystonia and exhibits a safety profile consistent with the known safety profile of abobotulinumtoxinA.

The Regions on the Light Chain of Botulinum Neurotoxin Type A Recognized by T Cells from Toxin-Treated Cervical Dystonia Patients. The Complete Human T-Cell Recognition Map of the Toxin Molecule.

We have recently mapped the in vitro proliferative responses of T cells from botulinum neurotoxin type A (BoNT/A)-treated cervical dystonia (CD) patients with overlapping peptides encompassing BoNT/A heavy chain (residues 449-1296). In the present study, we determined the recognition profiles, by peripheral blood lymphocytes (PBL) from the same set of patients, of BoNT/A light (L) chain (residues 1-453) by using 32 synthetic overlapping peptides that encompassed the entire L chain. Profiles of the T-cell responses (expressed in stimulation index, SI; Z score based on transformed SI) to the peptides varied among the patients. Samples from 14 patients treated solely with BoNT/A recognized 3-13 (average 7.2) peptides/sample at Z > 3.0 level. Two peptide regions representing residues 113-131 and 225-243 were recognized by around 40% of these patients. Regarding treatment parameters, treatment history with current BOTOX® only group produced significantly lower average T-cell responses to the 32 L-chain peptides compared to treatments with mix of type A including original and current BOTOX®. Influence of other treatment parameters on T-cell recognition of the L-chain peptides was also observed. Results of the submolecular T-cell recognition of the L chain are compared to those of the H chain and the T-cell recognition profile of the entire BoNT/A molecule is discussed. Abbreviations used: BoNT/A, botulinum neurotoxin type A; BoNT/Ai, inactivated BoNT/A; BoNT/B, botulinum neurotoxin type B; CD, cervical dystonia; L chain, the light chain (residues 1-448) of BoNT/A; LNC, lymph node cells; H chain, the heavy chain (residues 449-1296) of BoNT/A; HC, C-terminal domain (residues 855-1296) of H chain; HN, N-terminal domain (residues 449-859) of H chain; MPA, mouse protection assay; SI, stimulation index (SI = cpm of 3H-thymidine incorporated by antigen-stimulated T cells/cpm incorporated by unstimulated cells); TeNT, tetanus neurotoxin; TeNTi, inactivated TeNT.

Diphenhydramine for Acute Extrapyramidal Symptoms After Propofol Administration.

Extrapyramidal symptoms are an uncommon but well-recognized side effect after the administration of general anesthesia in patients without a significant neurologic history. Several case reports implicate propofol as the likely causative agent producing these symptoms, which include ballismus, dystonia, choreoathetosis, and opisthotonus. Currently, there is no clear consensus on first-line treatment of these symptoms. In each of the published cases, anticholinergic medications and benzodiazepines were central to initial management, although the speed and extent of symptom resolution were variable. Here we present a case of a 17-year-old boy with ulcerative colitis who presented with ballismus, torticollis, tongue thrusting, and oculogyric movements after colonoscopy under general anesthesia with propofol. The patient responded promptly to treatment with diphenhydramine. This is the first reported case in which diphenhydramine was successfully used as the primary treatment of severe extrapyramidal symptoms in a pediatric patient after propofol administration.

Torticollis as the Presenting Sign of Cervical Spondylodiscitis.

Acquired torticollis is a common clinical finding in children evaluated in the pediatric emergency department. It may be the presentation symptom of different illnesses, such as trauma, muscle contraction, infections, or malignancies, and an accurate differential diagnosis is required to correctly identify the cause and choose the right treatment. Spondylodiscitis is a low-grade bacterial infection that involves intervertebral disks and the adjacent vertebral bodies. Spondylodiscitis of the cervical spine is unusual and may be a rare cause of torticollis. We report the case of a 4-year-old male patient admitted to the emergency department for a 5-day history of painful torticollis. Blood tests showed an elevated erythrocyte sedimentation rate. The radiograph of the cervical spine showed a thin fifth cervical soma. The magnetic resonance imaging of cervical spine showed the alteration of cervical vertebral bodies and intervertebral disks, suggesting the diagnosis of cervical spondylodiscitis. The patient recovered after endovenous antibiotic treatment. We suggest that cervical spondylodiscitis should be suspected and investigated by means of an magnetic resonance imaging in every case of unexplained torticollis with persisting symptoms.

Torticollis in a haemophilic infant with inhibitor: a case of spinal epidural haematoma.

Central nervous system bleeding, which can be a life-threatening complication, is seen in 2.7% of patients with haemophilia. Spinal epidural haematomas represent about one-tenth of such cases. Here, we report on a 10-month-old boy with severe haemophilia A, who presented with torticollis. Although administration of factor VIII at a dose of 50 U/kg, the patient developed flaccid paralysis of the upper extremities. Factor VIII inhibitor screen was positive. Magnetic resonance imaging of the spine revealed spinal epidural haematomas, extending from C-1 to the cauda equina. Treatment was continued with recombinant activated factor VIIa without surgery. After 1 month, complete neurological recovery was achieved and fully resolved haematomas were detected on spinal MRI. A prompt radiological evaluation of the cervical spine with MRI should be made in patients with haemophilia presenting with torticollis. In addition, in the case of life-threatening bleeding in patients with haemophilia, the possibility of an inhibitor should be kept in mind.

Submolecular recognition of the C-terminal domain of the heavy chain of botulinum neurotoxin type A by T cells from toxin-treated cervical dystonia patients.

We determined the T-cell proliferative responses of the peripheral blood lymphocytes (PBL) from 25 botulinum neurotoxin (BoNT)-treated patients to 31 overlapping synthetic peptides encompassing the C-terminal half (residues 855-1296) of BoNT/A heavy chain. Responses of PBL to HC peptides varied among patients. Samples from 14 patients treated solely with BoNT/A recognized 2-13 (average 6.4) peptides/sample at Z>3.0 level. Six peptide regions representing residues 855-873, 1023-1041, 1051-1069, 1093-1111, 1135-1153 and 1247-1265 were frequently recognized by 36-57% of these PBLs. Influence of treatment parameters on T-cell recognition of the peptides was also investigated.

The C-terminal heavy-chain domain of botulinum neurotoxin a is not the only site that binds neurons, as the N-terminal heavy-chain domain also plays a very active role in toxin-cell binding and interactions.

Botulinum neurotoxins (BoNTs) possess unique specificity for nerve terminals. They bind to the presynaptic membrane and then translocate intracellularly, where the light-chain endopeptidase cleaves the SNARE complex proteins, subverting the synaptic exocytosis responsible for acetylcholine release to the synaptic cleft. This inhibits acetylcholine binding to its receptor, causing paralysis. Binding, an obligate event for cell intoxication, is believed to occur through the heavy-chain C-terminal (HC) domain. It is followed by toxin translocation and entry into the cell cytoplasm, which is thought to be mediated by the heavy-chain N-terminal (HN) domain. Submolecular mapping analysis by using synthetic peptides spanning BoNT serotype A (BoNT/A) and mouse brain synaptosomes (SNPs) and protective antibodies against toxin from mice and cervical dystonia patients undergoing BoNT/A treatment revealed that not only regions of the HC domain but also regions of the HN domain are involved in the toxin binding process. Based on these findings, we expressed a peptide corresponding to the BoNT/A region comprising HN domain residues 729 to 845 (HN729-845). HN729-845 bound directly to mouse brain SNPs and substantially inhibited BoNT/A binding to SNPs. The binding involved gangliosides GT1b and GD1a and a few membrane lipids. The peptide bound to human or mouse neuroblastoma cells within 1 min. Peptide HN729-845 protected mice completely against a lethal BoNT/A dose (1.05 times the 100% lethal dose). This protective activity was obtained at a dose comparable to that of the peptide from positions 967 to 1296 in the HC domain. These findings strongly indicate that HN729-845 and, by extension, the HN domain are fully programmed and equipped to bind to neuronal cells and in the free state can even inhibit the binding of the toxin.

Relevance of sonography for botulinum toxin treatment of cervical dystonia: an expert statement.

Botulinum neurotoxin A (BoNT A) is the first-line treatment for cervical dystonia. However, although BoNT A has a favorable safety profile and is effective in the majority of patients, in some cases the treatment outcome is disappointing or side effects occur when higher doses are used. It is likely that in such cases either the target muscles were not injected accurately or unintended weakness of non-target muscles occurred. It has been demonstrated in clinical trials for spastic movement disorders that sonography-guided BoNT A injections could improve treatment outcome. As the published evidence for a benefit of sonography-guided BoNT injection in patients with cervical dystonia is scarce, it is the aim of this review to discuss the relevance of sonography in this indication and provide a statement from clinical experts for its use. The clear advantage of sonography-guided injections is non-invasive, real-time visualization of the targeted muscle, thus improving the precision of injections and potentially the treatment outcomes as well as avoiding adverse effects. Other imaging techniques are of limited value due to high costs, radiation exposure or non-availability in clinical routine. In the hands of a trained injector, sonography is a quick and non-invasive imaging technique. Novel treatment concepts of cervical dystonia considering the differential contributions of distinct cranial and cervical muscles can reliably be implemented only by use of imaging-guided injection protocols.

Factors influencing secondary non-response to botulinum toxin type A injections in cervical dystonia.

BACKGROUND: The development of secondary non-response (SNR) to botulinum neurotoxin type-A (BoNT-A) is considered a key issue in the management of cervical dystonia (CD). This case-controlled study was performed to systematically identify factors influencing SNR during BoNT-A therapy. METHODS: This was a retrospective, international, non-interventional study of CD patients. Patients with SNR were matched with up to three responder patients (control) on the basis of duration of therapy and number of injection cycles. Factors influencing the development of SNR were screened using a univariate logistic regression model and confirmed using a multivariate conditional logistic regression model. RESULTS: 216 patients were enrolled, and 201 (SNR = 52; responder = 149) were matched and subdivided into blocks (doublets, triplets or quadruplets). At baseline, a significantly higher proportion of SNR patients had received previous or concomitant therapies (p = 0.038) and surgery for CD (p = 0.007) compared with controls. Although disease severity at onset was similar between groups, a significantly higher proportion of SNR patients experienced severe CD at the time of SNR compared with controls at the last documented visit. Multivariate analyses identified five factors that were significantly associated in predicting SNR (odds ratio [OR] > 1 indicated higher chances for being SNR): previous surgical procedure for CD (OR 9.8, p = 0.013), previous BoNT-A related severe adverse event (AE) (OR 5.6 p = 0.027), physical therapy (OR 4.6, p = 0.028), neuroleptic use (OR 3.3, p = 0.019) and average BoNT-A dose (OR 2.7, p = 0.010). CONCLUSIONS: These findings suggest that SNR may not reflect true pharmacological resistance to BoNT-A therapy, but may be related to underlying disease severity.

The physical, social and emotional aspects are the most affected in the quality of life of the patients with cervical dystonia / Os aspectos físicos, sociais e emocionais são os mais afetados na qualidade de vida dos pacientes com distonia cervical

Objective : Describe the functional, clinical and quality of life (QoL) profiles in patients with cervical dystonia (CD) with residual effect or without effect of botulinum toxin (BTX), as well as verify the existence of correlation between the level of motor impairment, pain and QoL. Method : Seventy patients were assessed through the Craniocervical dystonia questionnaire-24 (CDQ-24) and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Results : The greater the disability, pain and severity of dystonia, the worse the QoL (p<0.0001). Greater severity relates to greater disability (p<0.0001). Pain was present in 84% of the sample, being source of disability in 41%. The most frequent complaints were: difficulty in keeping up with professional and personal demands (74.3%), feeling uneasy in public (72.9%), hindered by pain (68.6%), depressed, annoyed or bitter (47.1%), lonely or isolated (32.9%). Conclusion : The physical, social and emotional aspects are the most affected in the QoL of these patients. .

Objetivo : Descrever o perfil funcional, clínico e de qualidade de vida (QV) de pacientes com distonia cervical (DC) com efeito residual ou sem efeito da toxina botulínica (BTX), bem como verificar a existência de correlação entre o nível de comprometimento motor, dor e QV. Método : Setenta pacientes foram avaliados através do Craniocervical dystonia questionnaire-24 (CDQ 24) e Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Resultados : Quanto maior a incapacidade, dor e gravidade da distonia pior a QV (p<0,0001). A maior gravidade está relacionada à maior incapacidade (p<0,0001). A dor esteve presente em 84% da amostra sendo fonte de incapacidade em 41%. Dificuldade em manter-se com as demandas profissionais e pessoais (74,3%), sentir-se desconfortável em público (72,9%), prejudicado pela dor (68,6%), deprimido, irritado ou amargurado (47,1%), solitário ou isolado (32,9%) foram as queixas mais frequentes. Conclusão : Os domínios físico, social e emocional são os mais prejudicados na QV desses pacientes. .

Evaluation of the efficacy of deep brain stimulation in the surgical treatment of cervical dystonia.

OBJECTIVE: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a promising therapeutic option for patients with medically refractory dystonia. We present the results after 1 year of DBS of the GPi in 4 patients with cervical dystonia. MATERIALS AND METHODS: Four patients with medically refractory cervical dystonia who underwent stereotactic pallidal DBS surgery between June 2010 and November 2011 were included in this retrospective study. Preoperative and postoperative evaluations at 3, 6 and 12 months after surgery were performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). RESULTS: The 4 patients experienced a sustained improvement, with a mean TWSTRS reduction of 74.25%, at 12 months follow-up. Disability improved by 80.5% (mean) at 1 year follow-up. No stimulation-related side effects were reported. CONCLUSION: Pallidal DBS is a valid and effective second-line treatment for patients with cervical focal dystonia. Our results support its use in patients with an insufficient response to medical treatment.

IncobotulinumtoxinA (Xeomin): background, mechanism of action, and manufacturing.

IncobotulinumtoxinA is the third botulinum neurotoxin type A (BoNTA) to be approved for aesthetic use in the United States. This article introduces the new product with an overview of clinical applications and a discussion of the neurotoxin's molecular structure. The role and clinical relevance of complexing proteins in BoNTA products are discussed. Finally, incobotulinumtoxinA's mechanism of action is described.