Dystonic Muscles Research Articles

Bilateral platysma dystonia

Platysma dystonia is an involuntary movement of platysma muscle. It is a rare form of dystonia. In this case report, we would like to report a good result of peripheral nerve denervation for bilateral platysma dystonia case. A 58-years-old woman presented with an 8-years history of involuntary jerking movement of her bilateral platysma muscles. Oral medication was not effective. Microsurgical denervation of the facial nerves and its terminal branches to the platysma muscles were performed. Immediately after surgery, the patient showed considerable improvement. There were no complications. Selective peripheral denervation is useful for dystonia of the platysma muscles.

Paroxysmal nocturnal haemoglobinuria.

Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. PNH is caused by somatic mutations in PIGA (which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A) in one or more HSC clones. The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59), which are both complement inhibitors. Clinical manifestations of PNH occur when a HSC clone carrying somatic PIGA mutations acquires a growth advantage and differentiates, generating mature blood cells that are deficient of GPI-anchored proteins. The loss of CD55 and CD59 renders PNH erythrocytes susceptible to intravascular haemolysis, which can lead to thrombosis and to much of the morbidity and mortality of PNH. The accumulation of anaphylatoxins (such as C5a) from complement activation might also have a role. The natural history of PNH is highly variable, ranging from quiescent to life-threatening. Therapeutic strategies include terminal complement blockade and bone marrow transplantation. Eculizumab, a monoclonal antibody complement inhibitor, is highly effective and the only licensed therapy for PNH.

Does dystonic muscle activity affect sense of effort in cervical dystonia?

BackgroundFocal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues.MethodsNeck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC). Three task conditions were tested: i) with visual force feedback, ii) without visual feedback (requiring use of sense of effort), iii) without visual feedback, but with neck extensor muscle vibration (modifying muscle afferent cues). Trapezius muscle activity was recorded using electromyography (EMG).ResultsCD patients did not differ in task performance from healthy subjects when using visual feedback (ANOVA, p>0.7). In contrast, when relying on sense of effort cues (without visual feedback, 5% MVC), force control was impaired in patients without retrocollis (p = 0.006), but not in patients with retrocollis (p>0.2). Compared to controls, muscle vibration without visual feedback significantly affected performance in patients with retrocollis (p<0.001), but not in patients without retrocollis. Extensor EMG during rest, included as covariate in ANOVA, explained these group differences.ConclusionThis study shows that muscle afferent feedback biases sense of effort cues when controlling neck forces in patients with CD. The bias acts on peripheral or central sense of effort cues depending on whether the task involves dystonic muscles. This may explain why patients with retrocollis more accurately matched isometric neck extension forces. This highlights the need to consider clinical features (pattern of dystonic muscles) when evaluating sensorimotor integration in CD.

A differential approach to the improvement of prevention and correction of neuroleptic side extrapyramidal disorders with pantogam activ in patients with schizophrenia

To assess the efficacy and safety of pantogam active (PA) in prevention and correction of neurological side-effects during the course neuroleptic treatment of acute endogenous psychoses. Eighty schizophrenic patients (mean age 33 years) with acute psychosis were examined. All patients received 28-day course treatment with typical and atypical neuroleptics. Two equal groups were studied: patients of the first group were treated with trihexyphenidyl (THP) in dose of 0,002-0,012 mg and patients of the second group received in addition PA in dose 0,9 mg/day. Clinical-observation, psychometric scales (PANSS, CGI-S, UKU) were administered at baseline and in 1st,3rd,7th, 14th, 21st, 28st day. PA in the combination with THP improved tolerability to neuroleptic therapy in whole and exerted the better correction effect on neuroleptic extrapyramidal disorders (EPD) compared to THP monotherapy. The number of patients with ERD was reduced by 1.5 times and prevention of EPD was observed 3 times more frequent in the group treated with PA. In the THP group, other adverse effects (AE) were 1,7 times more frequent and the total AE score was 2,5 times greater compared to the PA group (131 vs 50). Correction and preventive effects of the combined treatment on the clinically severe symptoms of EPD (akathisia, muscle dystonia) were more frequent in patients treated with typical neuroleptics. A less amount of THP (by 1,2 times) was used to stop EPD in the PA group. PA in the combination with THP has demonstrated the clear neuroprotective effect on the development, frequency and clinical presentations of neurological side-effects. The РА can be recommended as a drug of choice for correction and prevention of neuroleptic side-effects, it promotes their tolerability and improves quality of life during the course treatment.

Complications of intrathecal baclofen therapy

To analyze complications of intrathecal baclofen therapy and identify high-risk groups. We implanted 52 pumps to spastic patients for chronic intrathecal baclofen infusion. Two groups of patients were distinguished: 23 patients with spinal spasticity (group 1) and 29 patients with cerebral spasticity (group 2). The mean patient age was 37.2±14.6 years in group 1 and 17.3±10.3 years in group 2. Surgery was performed according to a standard procedure. A Medstream (Codman) pump was implanted in 10 cases, and a Synchromed II (Medtronic) pump was implanted in the remaining 42 cases. Complications developed in 12 (23%) patients. We divided complications into 3 groups: baclofen underdose, baclofen overdose, and others. Insufficiency of intrathecal therapy was observed in 7 cases, which was caused by catheter migration (5 cases) and pump dysfunction (2 cases). In one case, baclofen overdose was observed after air travel. Other complications included 4 cases of persistent peri-implant seroma and infectious complications. Groups with a high risk of complications were identified based on an analysis of the results. Patients with severe dystonia of the trunk muscles have an increased risk of spinal catheter migration. Pronounced communicating hydrocephalus is associated with the risk of cerebrospinal fluid leak through a catheter shaft channel. Weakness of the axial musculature can lead to progression of scoliotic deformity. In some cases, chronic intrathecal baclofen therapy can be accompanied by various complications. This technique should be carefully used in patients from high-risk groups.

Botulinum toxin for treatment of the focal dystonia.

Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia. Botulinum toxin treatment results in significant improvement of decreasing the symptom of dystonia. The success of treatment is dependent on muscle selection for treating involved muscles. Usually performance of botulinum toxin treatment is injected according to clinical experience of surface anatomy or clinical location method. However, the benefit of guidance of botulinum toxin treatment is improve outcome in dystonia. Injection techniques with ultra sound echogram or EMG guidance to identify dystonic muscles can be more benefit for patients.

The influence of occlusal stabilization appliances on cervical dystonia symptoms.

ObjectivesThe aim of this study was to assess the therapeutic efficiency of the occlusal stabilization appliance (OSA) in patients with cervical dystonia (CD).MethodsThe study included 11 patients aged between 29 and 80 years, 7 women and 4 men, diagnosed with primary CD. The patients underwent an extra- and intra-oral clinical examination, followed by para-clinical examinations, necessary for the specifications of the OSA. The following data were recorded: demographic parameters, CD duration, management of the disease, dental impression, recording of the centric relationship, recording of the position of the upper jaw with the facial bow. A standardized OSA was manufactured in a private dental laboratory. Patients received instructions for wearing the OSA for 24 hours. Patients filled a questionnaire designed by us, which evaluated the effects of wearing the OSA over a 24-hours period on the symptoms of CD: muscles contraction, pain, discomfort while walking, sleep quality, tremor. The patients kept the dental appliances, and after three months they completed the questionnaire one more time.ResultsThe OSA was applied on the lower arch in 3 (27.3%) patients and on the upper arch in 8 (72.7%) patients. The OSA wearing time for the first 24 h was on average 19.2±6 hours. Total relaxation of dystonic muscles was reported by 9 (81.8%) patients, while 2 (18.2%) patients related partial muscle relaxation. Seven (63.6%) patients reported a pain decrease. Increased comfort while walking was observed by 8 (72.7%) patients. Two (18.2%) patients described an increase of sleep quality. In two (18.2%) patients the tremor disappeared. All patients reported difficulties while eating and removed the OSA during meals. Patients who wore the OSA for more hours, experienced a pain decrease (p=0.08), an increase in sleep quality (p=0.1), the disappearance of the tremor (p=0.1). After three months, only seven patients continued to use the OSA. More patients described a pain decrease after three months (5 (71.4%) vs. 4 (57.1%); p=0.5), relaxation of dystonic muscles (7 (100%) vs. 6 (85.7%); p=0.3).ConclusionsThe use of OSA might be beneficial in CD patients, as it reduced the dystonic symptoms, pain severity and improved the quality of sleep.

Pregnancy with Paroxysmal Nocturnal Hemoglobinuria (PNH) : A Case Report

Paroxysmal nocturnal hemoglobinuria (PNH) resulting from failure of expression of anchoring protein glycosylphosphatidylinositol (GPI), is an uncommon acquired hemolytic anemia manifested by hemoglobinuria, abdominal pain, smooth muscle dystonia, fatigue and thrombosis. Pregnancy with PNH is rare, and studies showed an increased risk of foetomaternal complications even death due to worsening cytopenias and consequent thrombosis. Here we reported a case of PNH in pregnancy. Mrs. Nasima, aged 25 years, para: 0+0, was diagnosed as a case of PNH by flowcytometry analysis on granulocytes about 1 year 3months back. Her pregnancy was no planned and she was not on antenatal care but took consultation from haematologist time to time. Her Hb level was 7-8gm/dl throughout pregnancy and needed repeated blood transfusion for anaemia. She was referred from a nearby clinic at 37 weeks of pregnancy with PROM and labour pain to the Foetomaternal medicine wing of Obs &amp; Gynae department of BSMMU. On admission she was mildly icteric. She was treated with steroid as per consultation of haematologist. Due to failure of progress of labour emergency caesarean section was done under spinal anesthesia and a low birth weight female baby of 1.6 kg was delivered. One unit of blood transfusion was given post operatively.Bangladesh J Obstet Gynaecol, 2014; Vol. 29(2) : 111-115

Scaled Vibratory Feedback Can Bias Muscle Use in Children With Dystonia During a Redundant, 1-Dimensional Myocontrol Task.

Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (ie, vibration that was directly or inversely proportional to muscle activity) would increase use of the vibrated muscle because of task-relevant sensory information, whereas nonscaled vibration would not change muscle use. The study was conducted on 11 subjects with dystonia and 14 controls. Each subject underwent 4 different types of vibration on the more dystonic biceps muscle (or nondominant arm in controls) in a 1-dimensional, bimanual myocontrol task. Our results showed that only scaled vibratory feedback could bias muscle use without changing overall performance in children with dystonia. We believe there may be a role in rehabilitation for scaled vibratory feedback to retrain abnormal muscle patterns.

Botulinum toxin-A for treatment of Pisa syndrome: Towards a decision-making algorithm?

Pisa syndrome (PS) is a common abnormal posture of the trunk in Parkinson disease which is defined as a lateral flexion of the spine in the coronal plane and/or scoliosis. Few studies described focal treatment of dystonia of paraspinal muscles, with unpredictable results, while the participation of quadratus lumborum and external oblique homolateral seem to be interesting. The aim of this study is to estimate the effects of treatment by botulinum toxin of trunk muscles dystonia in PS. The patients were seen in multidisciplinary program to do morphological imagery of spine and electromyographic examination of quadratus lumborum, external oblique, internal oblique and paraspinal. Only the patients with dystonia in muscle that are in homolateral side were treated by toxin A. The evaluation of the effects of treatment was realized in posteriori on the data of clinical file. Txenty-six patients were seen from March 2014 to January 2016. Fourteen patients did not present a dystonia of the trunk. Two of them were treated in analgesic purpose among whom, one had beneficial effects. Twelve patients were treated, among whom, 7 in quadratus lumborum, 3 in quadratus lumborum and external oblique and 2 in external oblique. The treatment was effective for 8 of them on the pain and for 6 of them on the slope of spine. Focal dystonia treatment in quadratus lumborum and external oblique seem to be interesting in PS. A treatment with analgesic aim could be processed, at the risk of seeing deteriorating posture because of the weakening of the muscles that retain the fall. Other studies are necessary to specify the algorithm of care of this syndrome, including global rehabilitation program.

Deep Venous Thrombosis Caused by Paroxysmal Nocturnal Hemoglobinuria in a Young Man

Background: Paroxysmal nocturnal hemoglobinuria is a rare acquired autoimmune disease relation to defect of hematopoietic stem, and is often associated with high rate of life-threatening venous thrombosis. Method: Lower extremity vein thrombosis is rarer than cerebral and hepatic veins in terms of thrombosis localization. Patients are exposed to intravascular hemolysis, smooth muscle dystonia, renal failure, arterial and pulmonary hypertension, recurrent infectious diseases and an increased risk of especially terrible thrombotic complications. The diagnosis is made by flow cytometry. Deficiency of the glycophosphatidylinositol - anchored complement regulatory proteins CD55 and CD59 accounts for the intravascular hemolysis that is the primary clinical manifestation of the disease. Besides, paroxysmal nocturnal hemoglobinuria is frequently associated with aplastic anemia or low-risk myelodysplasia and may be asymptomatic. Result: A patient, who developed thrombosis of the bilateral common iliac veins with the diagnosis of paroxysmal nocturnal hemoglobinuria, is described.

Denervation and myotomy of muscles of the omotrapezoid triangle of the neck improve the outcomes of surgical treatment of laterocollis and torticollis subtypes of spasmodic torticollis: 58 case analysis.

The main objective of this study was to analyze the outcomes of denervation and myotomy of the muscles of the omotrapezoid triangle of the neck in the treatment of 58 patients with the laterocollis and torticollis subtypes of spasmodic torticollis. Fifty-eight patients with the laterocollis and torticollis subtypes of spasmodic torticollis underwent 135 staged microsurgical denervations, including 25 denervation and myotomy procedures on the dystonic muscles of the omotrapezoid triangle (Tretyak's procedure). The outcome evaluation was conducted via neurological examination and the Toronto Western Spasmodic Torticollis Rating Scale (Severity subscale). Tretyak's procedure allowed us to improve the outcomes of surgical treatment of the latero- and torticollis subtypes of spasmodic torticollis. Ninety-two percent of patients who underwent the denervation of the muscles of the omotrapezoid triangle moved to the group with lower ST severity-predominantly to the group with mild severity (21 patients out of 25). Tretyak's procedure appeared to be effective in 100% of patients with the torticollis subtype of ST (15 patients out of 15) and in 80% of patients with the laterocollis subtype of ST (8 patients out of 10). Tretyak's procedure appears to be an excellent additional surgical procedure in terms of improvement of the outcomes of the "classic" Bertrand microsurgical denervation of the muscles of the neck in patients with the latero- and torticollis subtypes of spasmodic torticollis; staging of surgical denervation of muscles of the neck in the treatment of patients with the latero- and torticollis subtypes of spasmodic torticollis allows the surgeon to precisely evaluate the outcomes of previously conducted procedures, individualize the surgical approach by providing the necessary time and space to create a well-defined plan and thoroughly define the aims of further surgical denervation.

Risperidone Induced Pisa Syndrome in a Male Adolescent.

Pisa syndrome, a rare dystonic reaction resulting from prolonged exposure to antipsychotic medications, is characterized by persistent dystonia of trunk muscles and abnormal posture. It is called Pisa syndrome, because the abnormal posture resembles the Leaning Tower of Pisa. Different from other types of dystonic reactions, Pisa syndrome is more prevalent in females and in older patients with organic brain changes. A 15-year-old male patient with mental retardation was admitted to pediatric neurology clinic for the complaint of abnormal posturing. He had been taking only risperidone for the last four years. Over the last month, the patient gradually developed tonic flexion of trunk and head toward left and was diagnosed with Pisa syndrome. In this paper, we aimed to discuss the association between risperidone use and Pisa syndrome in light of the available literature.

Botulinum Toxin Treatment for Limb Spasticity in Childhood Cerebral Palsy

CP is the most common cause of chronic disability in childhood occurring in 2–2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX) has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects, and possible resistance as well as specific use in the upper and lower limbs muscles.

Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination.

Oligodendrocyte differentiation and central nervous system myelination require massive reorganization of the oligodendrocyte cytoskeleton. Loss of specific actin- and tubulin-organizing factors can lead to impaired morphological and/or molecular differentiation of oligodendrocytes, resulting in a subsequent loss of myelination. Dystonin is a cytoskeletal linker protein with both actin- and tubulin-binding domains. Loss of function of this protein results in a sensory neuropathy called Hereditary Sensory Autonomic Neuropathy VI in humans and dystonia musculorum in mice. This disease presents with severe ataxia, dystonic muscle and is ultimately fatal early in life. While loss of the neuronal isoforms of dystonin primarily leads to sensory neuron degeneration, it has also been shown that peripheral myelination is compromised due to intrinsic Schwann cell differentiation abnormalities. The role of this cytoskeletal linker in oligodendrocytes, however, remains unclear. We sought to determine the effects of the loss of neuronal dystonin on oligodendrocyte differentiation and central myelination. To address this, primary oligodendrocytes were isolated from a severe model of dystonia musculorum, Dstdt-27J, and assessed for morphological and molecular differentiation capacity. No defects could be discerned in the differentiation of Dstdt-27J oligodendrocytes relative to oligodendrocytes from wild-type littermates. Survival was also compared between Dstdt-27J and wild-type oligodendrocytes, revealing no significant difference. Using a recently developed migration assay, we further analysed the ability of primary oligodendrocyte progenitor cell motility, and found that Dstdt-27J oligodendrocyte progenitor cells were able to migrate normally. Finally, in vivo analysis of oligodendrocyte myelination was done in phenotype-stage optic nerve, cerebral cortex and spinal cord. The density of myelinated axons and g-ratios of Dstdt-27J optic nerves was normal, as was myelin basic protein expression in both cerebral cortex and spinal cord. Together these data suggest that, unlike Schwann cells, oligodendrocytes do not have an intrinsic requirement for neuronal dystonin for differentiation and myelination.

Precise Muscle Selection Using Dynamic Polyelectromyography for Treatment of Post-stroke Dystonia: A Case Report.

Dystonia has a wide range of causes, but treatment of dystonia is limited to minimizing the symptoms as there is yet no successful treatment for its cause. One of the optimal treatment methods for dystonia is chemodenervation using botulinum toxin type A (BTX-A), alcohol injection, etc., but its success depends on how precisely the dystonic muscle is selected. Here, we reported a successful experience in a 49-year-old post-stroke female patient who showed paroxysmal repetitive contractions involving the right leg, which may be of dystonic nature. BTX-A and alcohol were injected into the muscles which were identified by dynamic polyelectromyography. After injection, the dystonic muscle spasm, cramping pain, and the range of motion of the affected lower limb improved markedly, and she was able to walk independently indoors. In such a case, dynamic polyelectromyography may be a useful method for selecting the dominant dystonic muscles.

Possibilities of using computed tomography to treat mixed cervical dystonia with botulinum toxin type A

The paper describes a clinical case demonstrating the possibilities of using computed tomography (CT) in the diagnosis and treatment of botulinum toxin type A (BTA) treatment of mixed cervical dystonia (CD). The poor result of initial treatment is due to the fact that the abnormally active deep muscles of the neck were beyond the reach of injection. Routine clinical examination cannot identify a concurrence of the caput and collis types of CD in most cases, which occurred in our patient. Objective examination revealed displacement of the larynx to the left from the incisura thyroidea superior, which was characteristic of the left-sided rotational caput type of CD; however, CT detected mixed CD (a concurrence of torticollis and torticaput in the left). Cervical spine CT could visualize not only the superficial, but also deep dystonic muscles of the neck, specify a botulinum toxin therapy regimen, and estimate a difference in the volumes of the normal or dystonic inferior oblique muscle of the head with further intramuscular administration of botulinum toxin. The evaluation of the efficiency and safety of BTA therapy for this disease, as well as practical guidelines for the use of CT in the diagnosis and treatment of mixed CD are given.

Functional disorders in patients with lip and nose deformity after cheilorhinoplasty.

Clinical analysis of the nasolabial complex in patients suffering of the unilateral cleft lip and palate deformity after cheilorhinoplasty is presented in the article. Functional disorders such as nasal breathe impairment and it's relation to the nasolabial muscle dystonia in the dependency of primary cheilorhinoplasty type are analyzed. The plan of surgical treatment as well as the postoperative rehabilitation using the botulotoxin injections is offered.

Microsurgical denervation in treatment of focal cervical muscular dystonia: 72 cases analysis

Objective: To analyze the results of microsurgical denervation in spasmodic torticollis patients. Materials and methods: 72 patients with spasmodic torticollis were enrolled into the study. All enrolled patients underwent 154 microsurgical denervations of dystonic muscles, including 58 selective denervations of sternocleidomastoid muscle, 66 selective posterior ramisectomy of C1-C6 rootlets (Bertrand’s procedure), 30 denervations and myotomias of dystonic muscles of omo-trapezoid triangle (DMOTT). The outcome evaluation was conducted via neurological examination and Toronto Western Spasmodic Torticollis Rating Scale questionnaire. Results: Initial number of severe torticollis patients was 25 (34.72%), moderate severity – 40 (55.55%), mild severity – 7 (9.72%), during the analysis of long-term outcomes – 0 (0%), 38 (57.57%) and 28 (42.42%) respectively. Initial severe disability was in 44 patients (61.11%), moderate – in 25 (34.72%), mild – in 3 (4.16% ) patients, during the analysis of long-term outcomes – in 3 (4.54%), 34 (51.51%) and 29 (43.93%) patients respectively. Conclusions: Average index of good outcomes, which included morbid severity and disability severity, was 64.39%. In 35.61% of patients the outcomes of treatment were less satisfactory due to presence of residual pathological movements, neuralgia of occipital nerve, disesthesia in C2 dermatome, transient weakness of trapezoid muscle.

A Primary Sjögren's Syndrome Patient Presented with Severe General Toothache

<TEX>$Sj{\ddot{o}}gren's$</TEX> syndrome (SS) is an autoimmune disease characterized by an autoimmune exocrinopathy involving mainly salivary and lacrimal glands. Apart from manifestations due to involvement of exocrine glands, patients with SS can present with muscular and neurological manifestations. Here, we report a rare case of a 59-year-old woman with primary SS, who presented with severe general toothache and masticatory muscle myalgia successfully treated with clonazepam. Although it was not certain that these symptoms could be originated from focal muscle dystonia or neurological changes that are associated with primary SS, our case suggested that comprehensive evaluation including neuromuscular examinations in the oral and maxillofacial area is needed in patients with SS.