Increased Muscle Tone Research Articles

Recent State of Wearable IMU Sensors Use in People Living with Spasticity: A Systematic Review.

Spasticity is a disabling characteristic of neurological disorders, described by a velocity-dependent increase in muscle tone during passive stretch. During the last few years, many studies have been carried out to assess spasticity using wearable IMU (inertial measurements unit) sensors. This review aims to provide an updated framework of the current research on IMUs wearable sensors in people living with spasticity in recent studies published between 2017 and 2021. A total of 322 articles were screened, then finally 10 articles were selected. Results show the lack of homogenization of study procedures and missing apparatus information in some studies. Still, most studies performed adequately on measures of reporting and found that IMUs wearable data was successful in their respective purposes and goals. As IMUs estimate translational and rotational body motions, we believe there is a strong potential for these applications to estimate velocity-dependent exaggeration of stretch reflexes and spasticity-related characteristics in spasticity. This review also proposes new directions of research that should be challenged by larger study groups and could be of interest to both researchers as well as clinicians. The use of IMUs to evaluate spasticity is a promising avenue to provide an objective measurement as compared to non-instrumented traditional assessments.

Motor and behavioral phenotype of Dravet syndrome in adulthood

In a comparative cross-sectional study, 26 adult individuals with clinically typical, genetically confirmed Dravet syndrome (DS) and an equal number of individuals with early onset, problematic epilepsy, and intellectual disability (ID) of comparable severity were included. The aim of the study was to find out whether patients with DS could be clearly distinguished from the comparison group with regard to neurological and behavioral symptoms. Significant differences were found in that individuals with DS clearly more frequently exhibited a symptom cluster characterized by bradykinesia, hypomimia, hypophonia, (spastic) increased muscle tone, ataxia, sthenic perseveration, and a special interest in colors. To these symptoms must be added, according to the findings of previous examinations, mastication, camptocormia/antecollis on the one hand, and the tendency to visual hallucinations on the other hand, in order to define one neuropsychiatric phenotype of DS in adulthood.

OnabotulinumtoxinA for the treatment of headache: an updated review.

Botulinum toxin (BT) is a neurotoxin produced by Clostridium botulinum, a gram-positive anaerobic bacterium. Systemic human intoxication from BT following oral ingestion results in acute and life-threatening muscle paralysis called botulism. BT has a wide scope of therapeutic uses, including conditions associated with increased muscle tone, smooth muscle hyperactivity, salivation, sweating, and allergies, as well as for cosmetic purposes. Several commercial forms of BT are available for medical use, including Botox (onabotulinumtoxinA). Multiple studies have found evidence of an analgesic effect of onabotulinumtoxinA and demonstrated the benefits of its use for the treatment of various chronic pain disorders. In this review, we provide an update on the use of onabotulinumtoxinA for the treatment of headache disorders.

Алгоритм надання хірургічної допомоги хворим із локальною спастичністю в нижніх кінцівках при органічних ураженнях центральної нервової системи

У статті описано алгоритмічний підхід до лікування локальної спастичності нижніх кінцівок у хворих з органічними ураженнями центральної нервової системи (ЦНС). Кількість хворих з органічними ураженнями ЦНС збільшується, причиною цього є швидкий технічний прогрес та урбанізація. Питання покращення якості життя хворих з органічними ураженнями ЦНС у віддаленому періоді щодо актуальності виходять на перший план у неврології і нейрохірургії. Однією з основних причин низької якості життя цих хворих є патологічна м’язова спастичність. Спастичність визначають як руховий розлад, що є частиною синдрому ураження кортико-спінального тракту, характеризується швидкісно-залежним підвищенням м’язового тонусу, а також супроводжується підвищенням сухожилкових рефлексів внаслідок гіперзбудливості рецепторів розтягу.Такі хворі з труднощами пересуваються, догляд за ними ускладнюється. Спастичність у привідних м’язах стегна обтяжує догляд за хворим, унеможливлює формування кульшових суглобів хворих на дитячий церебральний параліч. Локальна спастичність у згиначах ступні та пальців обмежує функціональні можливості хворих, унеможливлює формування навичок стояння й ходи, призводить до формування патологічної пози, викривлення хребта, утворення м’язово-сухожилкових та суглобових контрактур. Під час ретельного передопераційного відбору проводився тест із параневральною блокадою бупівакаїном нервів, які іннервують спастичний м’яз. За відсутності необоротних фіброзно-дегенеративних змін у м’язах і збереженні рухливості у суглобах на час дії анестетика наставало суттєве покращення стану хворого, що супроводжувалось значним зниженням спастичності та збільшенням обсягу рухів у суглобах. В усіх хворих у ранньому післяопераційному періоді виявлено вірогідне зниження м’язового тонусу та значне збільшення обсягу рухів у суглобах. Завдяки цьому зникли спастичні синдроми, що вже на цьому етапі дало можливість проводити ранню реабілітацію, починати формування статомоторних навичок.

Kinesiology tape increases muscle tone, stiffness, and elasticity: Effects of the direction of tape application

The claim that the effects of kinesiology tape are different depending on the direction of tape application needs to be clearly ascertained. This study aimed to determine the immediate effects of two forearm kinesiology tape applications on muscle tone, stiffness, and elasticity of young individuals. Thirty-nine participants (15 men and 24 women) were randomized (1:1:1) to: the facilitatory group, receiving kinesiology tape applied from origin to insertion; the inhibitory group, receiving kinesiology tape applied from insertion to origin; or, a control group, without any intervention. The mechanical properties – tone, elasticity, and stiffness – of the forearm muscles were measured with a handheld mechanical impulse-based myotonometric device before and 30 min after the kinesiology tape application. Only the application of kinesiology tape from origin to insertion significantly increased muscle tone [16.6 (2.5) to 17.4 (3.5) Hz, p = 0.036], stiffness [318.3 (52) to 355.0 (87) N/m, p = 0.004], and elasticity [0.98 (0.1) to 1.10 (0.1), p = 0.023]. No changes were observed in both inhibitory kinesiology tape and the control group. In conclusion, kinesiology tape application has different effects depending on the direction of the taping application. The facilitatory tapping increased muscle tone, elasticity, and stiffness.

Assessment of the effect of methods of robotic medical rehabilitation with biofeedback on quality of life and psychoemotional status in patients after CVA with hemiparesis

Recently, to restore the functions of the affected limbs in patients who have had an ischemic stroke with movement disorders in the form of hemiparesis, non-drug methods have been actively used, including physiotherapy, physiotherapy exercises, kinesiotherapy and, especially, robotic biomechanics. The paper presents data on the effectiveness of using gait training on the BFB equipment with video gait reconstruction and biofeedback (BFB) in the late recovery period of medical rehabilitation. Material and methods. The study included 80 patients who underwent ischemic stroke with movement disorders in the form of hemiparesis with increased muscle tone by the type of spasticity. The patients were divided into 2 groups comparable in terms of clinical and functional characteristics: control group — 40 patients who received standard drug therapy and medical rehabilitation and the main group — 40 patients receiving standard drug therapy and medical rehabilitation (exercise therapy, medical massage, mechanotherapy) who were prescribed gait training with video reconstruction on a biofeedback system (BFB) «C-Mill». Subjective indicators of cognitive impairment (Montreal Cognitive Assessment), psychoemotional defects (Hospital Anxiety and Depression Scale) and quality of life (EQ-5D questionnaire) were assessed. Results. As a result of the studies, it has been proved that the inclusion of a gait stereotype with video reconstruction on a biofeedback system (BFB) «C-Mill» in the rehabilitation training program contributes to a significantly more pronounced improvement of cognitive functions and the quality of life, as well as to a decrease in the degree of psychoemotional disorders in patients after ischemic stroke with movement disorders in the form of hemiparesis with increased muscle tone by the type of spasticity. This is confirmed by the increase in the total indicator of the MoCA scale to 26,5±0,5 points, which corresponds to the reference values. In the patients of the control group, less pronounced results were obtained; the total indicator of the MoCA scale was 25,0±1,0 points, which is lower than normal; similar dynamics was observed when studying the data of the Hospital Anxiety and Depression Scale (HADS) and the EQ-5D questionnaire, which indicated the quality of life improvement. Conclusion. The inclusion of gait training on a biofeedback system (BFB) «C-Mill» by the method of «imposing» in medical rehabilitation of patients after ischemic stroke with motor impairments in the form of hemiparesis with increased muscle tone contributes to a significant improvement in cognitive functions, a decrease in the level of anxiety and depression and improved quality of life.

The effect of weight bearing exercises on Spastic Diplegic Children

Introduction: Cerebral Palsy (CP) refers to the group of varied neurological conditions or disease or disease which alters the motor capacities, movements, tonicity of muscles & postural changes in a child. Spastic diplegic cerebral palsy impacts bilateral lower extremities causing troubles with gait stability & coordination. He or she performs awkward walking the reflex is heightened. A toddler with mild spastic diplegic may also stroll without an assistive tool for community travel on the other side intense spastic diplegic cp needs assistive tool to stroll household distance. Main concentration of this project is on Cerebral Palsy (spastic diplegia) children having increased muscle tone specially in lower limb as a major complain. Methodology: 15 subjects were involved in the study aged from 1 to 10 years with a greater number of children falling GMFCS Level III and trained for weight bearing exercises, balance exercises, core exercises, positional exercises, walking exercises, modalities were also given to enhance the functioning of the muscle and worked to re-educate the muscles shows an increased result in the level of GMFCS from III to II. Modified Ashworth Scale was used to check the spasticity scoring present before and the rehabilitation program done for 6 weeks. Modified Time Up & Go Test was used to find out the functional capability and falling risks in children before and after the treatment. Result: Data were collected based on spasticity level scored by using Modified Ashworth Scale (MAS) scoring (pre and post treatment for 6 weeks) and Modified Time Up & Go Test (MTUGT) scoring (pre and post treatment for 6 weeks) with respect to GMFCS levels improvements in each subject. Participants were having increased number of falls while walking for few meters ranges from 20-27s, [Mean (SD)= 23.06±1.34] as their baseline assessment; there was decreased number of falls and improved balance after the protocol followed ranges to 15-20s, [Mean (SD)= 16.87±1.50] after protocol followed for 6 weeks. Participants were having spasticity in their lower limbs which was scored by Modified Ashworth Scale reading 3 or 4, [Mean (SD)=3.33±0.49] as their baseline assessment; there was increase in muscle tone and some passive movements were difficulty while some show rigidity while performing flexion & extension. The scoring has been reduced to 1 or 2, [Mean (SD)= 2.33±0.50] after the rehab protocol. Conclusion: The study will be able to able to identify the outcome measure of patient following weight bearing exercises Through this we conclude that when we provide the positional exercises, weight bearing exercises, and walking exercises in the treatment to the patients. It helps them to improve their spasticity level.Modalities were also used to initiate the muscles contraction and relaxation to re-educate the muscles to strengthen the muscles

Motor Function Test Protocol for Parkinsonian Triad in Rodent Model of Parkinson's Disease

Over the years, there has been an increase in research on parkinsonism in basic and translational neuroscience. Parkinson's disease (PD) is a progressive neurodegenerative disorder vehemently associated with motor function deficits and other unique features collectively called the Parkinsonian triad, which slightly differs from other movement disorders such as Wilson's disease, tardive dyskinesia, chorea, and athetosis. Parkinsonian triad combines three major motor phenotypes of PD including bradykinesia, rigidity, and resting tremors. Hence, there is a need to review motor deficits protocols to create a set of behavioral protocols that critically address the parkinsonian triad's quantification in PD models. Literature search on Medline and PubMed was conducted to access the articles on the motor function test in a rodent model of Parkinsonism. Search terms include parkinsonism, parkinsonian triad, bradykinesia, rigidity, resting tremors, stepping test, parallel bar test, pole test, and cylinder test. This review shows that bradykinesia characterized by difficulty in movement initiation could be assessed using a stepping test by measuring stepping length and time taken to initiate movement on a wooden ramp. It can also be assessed using a parallel bar test by measuring the time taken to make 90° turn. This turning hesitation is one of the critical features of akinesia. Rigidity is associated with an increase in muscle tone; it is assessed by using a pole test to measure the time taken for the rodent to slide down a smooth pole. Resting tremors is an involuntary, oscillatory movement of the distal part of the upper limb when not performing an action. It could be graded using a cylinder test when the rodent suspends its forelimb on the air in an attempt to climb the wall of the cylinder. In conclusion, the examinations and quantifications of the Parkinsonian triad are required to diagnose parkinsonism in rodent models.

Standardizing the Clinical Definition of Opioid Withdrawal in the Neonate

To standardize the clinical definition of opioid withdrawal in neonates to address challenges in clinical care, quality improvement, research, and public policy for this patient population. Between October and December 2020, we conducted 2 modified-Delphi panels using ExpertLens, a virtual platform for performing iterative expert engagement panels. Twenty clinical experts specializing in care for the substance-exposed mother-neonate dyad explored the necessity of key evidence-based clinical elements in defining opioid withdrawal in the neonate leading to a diagnosis of neonatal abstinence syndrome (NAS)/neonatal opioid withdrawal syndrome (NOWS). Expert consensus was assessed using descriptive statistics, the RAND/UCLA Appropriateness Method, and thematic analysis of participants' comments. Expert panels concluded the following were required for diagnosis: in utero exposure (known by history, not necessarily by toxicology testing) to opioids with or without the presence of other psychotropic substances, and the presence of at least two of the most common clinical signs characteristic of withdrawal (excessive crying, fragmented sleep, tremors, increased muscle tone, gastrointestinal dysfunction). Results indicate that both a known history of in utero opioid exposure and a distinct set of withdrawal signs are necessary to standardize a definition of neonatal withdrawal. Implementation of a standardized definition requires both patient engagement and a mother-neonate dyadic approach mindful of program and policy implications.

Аpplication of rehabilitation technologies to improve cognitive functions in patients with ischemic stroke

BACKGROUND: Currently, the development and implementation of new effective comprehensive programs for medical rehabilitation of patients who have undergone acute cerebrovascular accident is an important and urgent medical problem. AIMS: To study the effect of combined methods of medical rehabilitation in patients with post-stroke spasticity on cognitive functions and psychoemotional status. MATERIAL AND METHODS: The study involved 60 patients who underwent ischemic stroke with movement disorders in the form of hemiparesis with increased muscle tone in the form of spasticity in the long-term period. Patients of the control group (30 people) underwent standard drug therapy and medical rehabilitation, patients of the main group (30 people), against the background of standard drug therapy and medical rehabilitation, used combined physiotherapy methods from the Alpha LED Oxy Light Spa apparatus. Subjective indicators of cognitive impairment (Montreal Cognitive Assessment Scale) and psychoemotional defects (Hospital Anxiety and Depression Scale) were assessed. RESULTS: Immediately after treatment on day 14, cognitive functions significantly improved and the degree of psychoemotional defect decreased, which was confirmed by the MOCA and HADS scales. CONCLUSION: The inclusion of combined physiotherapy methods in the standard complex of medical rehabilitation and treatment of patients after ischemic stroke with movement disorders in the form of hemiparesis contributes to a significant improvement in cognitive functions and a decrease in the degree of psychoemotional impairment.

266. A Rare Case of Human Herpesvirus-6 (HHV-6) Encephalitis in an Immunocompetent Host

BackgroundHuman Herpesvirus-6 (HHV-6) seroprevalence rates in the United States range from 72-95%, but clinical illness in the adult population is extremely rare, which often presents as meningoencephalitis in immunocompromised hosts. The literature on HHV-6 encephalitis in immunocompetent adults is limited to a select number of case reports, ultimately providing scant treatment guidance for clinicians.MethodsThis is a unique case describing the clinical course of confirmed HHV-6 encephalitis in an immunocompetent host.ResultsThe patient is a 77-year-old immunocompetent female presenting with two days of global aphasia and increased muscle tone. She presented hypertensive with a leukocytosis. Work-up for acute stroke was unremarkable, but lumbar puncture revealed an elevated white blood cell (WBC) count of 39 leukocytes/mm3 with a lymphocytic predominance. BioFire FilmArray® Meningitis/Encephalitis panel (FAME) demonstrated positivity for HHV-6 with a viral load of 8,500 copies/mL in the cerebrospinal fluid (CSF) and 4.1 million copies/mL in serum. The patient experienced temporary improvement in her aphasia after being initiated on intravenous (IV) ganciclovir for 12 days. Shortly after the initiation of therapy, her aphasia worsened with repeat CSF studies demonstrating an increased viral load to 35,700 copies/mL. She was subsequently transitioned to IV foscarnet for HHV-6B coverage and discharged after completing 21 days of therapy with marked improvement in her symptoms. Two weeks later, the patient was readmitted for recurrence of aphasia. MRI brain at that time was unremarkable with repeat lumbar puncture demonstrating a WBC count of 8 with 113 copies/mL of HHV-6. Serum levels were also elevated to 4.7 million c/mL. The patient was restarted on foscarnet but continued to deteriorate clinically. She ultimately experienced multiple seizure-like episodes resulting in a noncommunicative, somnolent state. She was transitioned to hospice care and passed away 2 days after discharge.ConclusionDespite the use of recommended medical therapies, the mortality and clinical progression of HHV-6 in immunocompetent adults is still unpredictable. Further studies are needed in this population to provide guidance for clinicians.Disclosures All Authors: No reported disclosures

Present problem of neurororehabilitology: methods for quantitative assessment of pathological increased muscle tone

One of the urgent problems of neurorehabilitation is spasticity ― a motor disorder that depends on the rate of muscle stretching due to the enhancement of tonic stretch reflexes due to a violation of supraspinal inhibitory signals, which is manifested by intermittent or prolonged involuntary muscle activation. In addition to spasticity, the clinical forms of lesions of the upper motor neurons in the form of muscle hypertonicity include rigidity and dystonia.
 Although spasticity is one of the most common occurrences, its precise definition and pathophysiology remain unclear.
 Spasticity reduces the effectiveness of rehabilitation of patients with severe disabling diseases. With organic lesions of the brain, movement disorders are often caused by increased muscle tone, which makes it difficult to perform simple movements. For the correct setting of treatment goals for a patient with spasticity syndrome, including for the development of an individual rehabilitation program with a further assessment of its effectiveness, it is necessary to correctly determine the spasticity and its severity, differentiate from other forms of pathological changes in muscle tone (rigidity, plasticity, contractures), as well as to assess the impact on the active and passive function of the limb, daily life and quality of life of the patient.
 An important issue in the rehabilitation process is the method of quantitative assessment of the pathological increase in muscle tone, for which the collection of complaints and anamnesis, physical neurological examination, scales and various options for instrumental examination are used.
 The review article presents modern and traditional methods for quantifying muscle tone, as well as methods of therapy.

Zika virus and the impact on pregnancy

Since it was first associated with microcephaly and other central nervous system abnormalities, Zika virus infection emerged as a global health issue and discouraged pregnant women from traveling to areas affected by the Zika virus. Zika virus can be transmitted from mother to fetus during pregnancy, and can cause microcephaly, and other congenital malformations, known as congenital Zika syndrome. Microcephaly is determined by loss of brain tissue and abnormal brain development, and the outcome in children may vary, depending on the extent of the damage. Congenital Zika syndrome includes a broad spectrum of malformations, like limb contractions, increased muscle tone, eye abnormalities and hearing impairment. The purpose of this study is to synthesize available information about Zika virus and its impact on pregnancy and fetal development.

Evaluating the Effects of Botulinum Toxin Injection and Physiotherapy on Post-Stroke Patients During One Year Observation - a Pilot Study

Introduction: Stroke is a serious health problem in the modern population. Spasticity is one of the consequences of stroke and affects about 30% of people. Increased muscle tone affects postural control disorders. Due to the specificity of spasticity, therapy in post-stroke patients is a challenge for neurological physiotherapy. Therefore, it requires the development of appropriate management standards . Study aim: The aim of the study was to evaluate the effectiveness of 3 combination therapy cycles based on botulinum toxin injection and physiotherapy for muscle tone, muscle strength and postural stability in post-stroke patients qualified for the spasticity treatment programme of the lower and upper limbs. Material and methods: The pilot study involved 12 patients (6 from the lower limb and 6 from the upper limb programme). The 1-year combination therapy programmes included 3 botulinum toxin injections and 3 weeks of physiotherapy after each injection. Clinical evaluation was conducted before and after the 1-year observation cycle. The results were evaluated using: MAS (Modified Ashworth Scale), MRC (Medical Research Council Scale) and posture stability test on a balance platform (BiodexSD). Results: A decrease was observed in muscle tone of the lower and upper limbs, as well as an increase in muscular strength of the upper limb. However, there were no noted statistical significance of the studied parameters. Conclusions: Physiotherapy in combination with the botulinum toxin is an important element of improvement in post-stroke patients. However, further research is needed to explicitly confirm its effectiveness.

Нейрофизиологические особенности спастического синдрома у детей с детским церебральным параличом в зависимости от выраженности моторных нарушений

Актуальность. Детский церебральный паралич (ДЦП) — собирательный термин, объединяющий многочисленные тяжелые заболевания нервной системы. 80 % детей с ДЦП страдают спастическими формами, основным симптомом которых является повышение мышечного тонуса — спастичность. Объективизацию состояния мышечного тонуса и контроль за динамикой спастичности можно проводить с помощью методов биомеханики и электронейромиографического (ЭНМГ) исследования, что дает возможность качественно и количественно изучить состояние нервно-мышечной системы. Цель: установить клинико-нейрофизиологические особенности спастического синдрома у детей с ДЦП в зависимости от выраженности моторных нарушений. Материалы и методы. Обследовано 122 ребенка с ДЦП (средний возраст 8,8 ± 3,7 года), которые были распределены на группы согласно шкале больших моторных функций, расширенной и дополненной (Gross Motor Function Classification (GMFCS E&R)). Всем пациентам проведено тщательное неврологическое обследование и осуществлялось ЭНМГ-исследование. Для оценки надсегментарного (верхнего мотонейрона) и сегментарных (α-мотонейронов спинного мозга и периферических нервов) уровней поражения анализировали параметры Н-рефлекса и F-волны. Результаты. У большинства обследованных детей были диагностированы спастические формы ДЦП: у 40 (32,8 %) детей — спастическая диплегия, у 25 (20,5 %) — гемипаретическая форма, у 6 (4,9 %) — спастический трипарез, у 34 (27,9 %) — спастический тетрапарез. У детей с ДЦП с выраженными моторными нарушениями значительно чаще наблюдалась ортопедическая патология, а именно эквиновальгусная установка и плосковальгусные деформации стоп. По данным ЭНМГ у больных с ДЦП регистрировались нарушения надсегментарных влияний, проявлявшиеся повышением амплитуды М-ответа, особенно при тестировании большеберцового нерва, увеличением соотношения Нмах/Ммах, повышением амплитуды Н-рефлекса и F-волны. Выводы. С увеличением выраженности двигательных нарушений по шкале больших моторных функций (GMFCS E&R) у детей с детским церебральным параличом достоверно усугублялись нейрофизиологические изменения.

Author Response: Clinical Reasoning: A 70-Year-Old Man With Right Arm and Leg Shaking.

We appreciate the comments from Drs. Freund and Tatum and agree that frontal lobe seizures are an important consideration.1 In small studies of patients with frontal lobe epilepsy, the ictal EEG was obscured by an artifact or seemed normal in only 1.5% of cases localized to the dorsolateral frontal cortex. However, up to 50% of cases were localized to the medial frontal cortex.2 Our patient had bilateral symptoms of increased muscle tone and an impaired ability to speak upon presentation, which persisted throughout the duration of continuous EEG.1 The EEG demonstrated generalized slowing without evidence of epileptiform abnormality. The patient gradually improved in the timeline expected after acute stroke, without intervention of antiepileptic treatment.1 For this reason and those outlined in our article, we believe stroke is the most likely cause of the patient's symptomology. The co-occurrence of acute stroke and seizure has previously been reported to be as high as 9%, with most cases representing nonconvulsive status epilepticus (NCSE), as opposed to convulsive seizures.3 Although it is unclear whether the co-occurrence of acute stroke and status epilepticus leads to higher mortality rates, there is evidence that this incidence leads to higher rates of functional disability.4 Therefore, we agree it is important to consider seizure in the differential diagnosis of a patient presenting with acute stroke, despite a negative surface EEG.

Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease.

Objective: Mitochondrial disease is a multisystem disorder resulting from mitochondrial dysfunction. Although musculoskeletal system is vulnerable to mitochondrial dysfunction, little information is available on orthopedic issues such as hip displacement and scoliosis in patients with mitochondrial disease. We aimed to examine the point prevalence of hip displacement and investigate the associated factors in patients with mitochondrial disease.Methods: We retrospectively reviewed the medical records and plain radiographs of patients diagnosed with mitochondrial disease between January 2006 and January 2019 at a single institution. Data, including patient age, sex, follow-up duration, syndromic diagnosis, and gross motor function were collected. Migration percentage was measured on the radiographs. The clinical and radiologic variables were compared between patients classified according to the presence of hip displacement and motor function level.Results: We included 225 patients (135 men, 90 women). The mean age at the latest follow-up was 11.1 years, and the mean follow-up duration was 7.0 years. Hip displacement was noted in 70 (31.1%) patients. The proportion of patients with Leigh disease (p = 0.007) and the ratio of non-ambulators (p < 0.001) were higher among patients with hip displacement. The proportion of patients with Leigh disease was higher in the non-ambulators than the ambulators.Conclusion: One-third of patients with mitochondrial disease developed hip displacement. Hip displacement was more common in non-ambulators or patients with hypertonia. Careful and serial monitoring for hip problems is required for non-ambulatory patients with mitochondrial disease who have increased muscle tone.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants in STT3A, leading to an autosomal-dominant CDG. STT3A encodes the catalytic subunit of the STT3A-containing oligosaccharyltransferase (OST) complex, essential for protein N-glycosylation. Affected individuals presented with variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; half had intellectual disability. Additional features included increased muscle tone and muscle cramps. Modeling of the variants in the 3D structure of the OST complex indicated that all variants are located in the catalytic site of STT3A, suggesting a direct mechanistic link to the transfer of oligosaccharides onto nascent glycoproteins. Indeed, expression of STT3A at mRNA and steady-state protein level in fibroblasts was normal, while glycosylation was abnormal. In S.cerevisiae, expression of STT3 containing variants homologous to those in affected individuals induced defective glycosylation of carboxypeptidase Y in a wild-type yeast strain and expression of the same mutants in the STT3 hypomorphic stt3-7 yeast strain worsened the already observed glycosylation defect. These data support a dominant pathomechanism underlying the glycosylation defect. Recessive mutations in STT3A have previously been described to lead to a CDG. We present here a dominant form of STT3A-CDG that, because of the presence of abnormal transferrin glycoforms, is unusual among dominant type I CDGs.

Modern approaches to the development of rehabilitation programs for increasing muscle strength and volume of motion in the limbs in patients after ischemic stroke

The paper presents an analysis of the data obtained on the effectiveness of the inclusion of a pulsed low-frequency electrostatic field in the standard complex of medical rehabilitation in the long-term period in 60 patients who had an ischemic stroke with movement disorders in the form of hemiparesis with an increase in muscle tone by the type of spasticity, which were divided into 2 comparable clinically — functional characteristics of the group: the main group — 30 patients who underwent a course of massage with a pulsed low-frequency electrostatic field from the «Khivamat» apparatus in addition to the standard rehabilitation complex, consisting of exercise therapy, medical massage, kinesitherapy and medication support, and the control group — 30 patients, who received only the standard complex of medical rehabilitation and drug therapy. For a comparative assessment of muscle strength and range of motion in the extremities in patients after ischemic stroke in the initial state and after the course of treatment, we used the modified Ashfort spasticity scale (MAS), Bartel’s index, and goniometry indices. Research results. Before treatment, all patients with post-stroke spasticity included in the study had impaired motor functions of the upper limb in the form of moderate hemiparesis with high muscle tone and changes in the amplitude of movement. In the initial state, all patients included in the study showed motor changes in functions in the form of moderate hemiparesis with muscle hypertonicity, a decrease in the amplitude of movement of the upper limb and a decrease in the activity of daily life. After the course of treatment, the patients of the main group showed a pronounced positive dynamics of indicators, which was confi rmed by a significant decrease by 23.8 % (p &lt; 0,05) in spasticity in the affected limb according to the MAS scale, which decreased after 6 months by 42,8 % (p &lt; 0.01), and after 12 months by 38.0 % (p &lt; 0,01). In patients of the control group, significantly less pronounced and unstable results were obtained and the studied indicator decreased after the course of treatment by 14,3 % (p &gt; 0,05), after 6 months by 19,0 % (p &lt; 0,05), and after 12 months approached the original value. The decrease in spasticity was confirmed by goniometric data, which indicated an increase in active functional use of the hand in the main group. Conclusion: The inclusion in a comprehensive rehabilitation program of patients after acute circulatory disorders with motor disorders in the form of hemiparesis with increased muscle tone by the type of spasticity of pulsed low-frequency electrostatic massage contributes to a significant decrease in the severity of spasticity, an increase in the range of motion in the affected limbs and an expansion of daily functional independence.

Increase in muscle tone promotes the use of ankle strategies during perturbed stance.

To maintain an upright standing posture against external disturbances, the human body mainly employs two types of postural control strategies: "ankle strategy" and "hip strategy." While it has been reported that the magnitude of the disturbance alters the use of postural control strategies, it has not been elucidated how the level of muscle tone, one of the crucial parameters of bodily function, determines the use of each strategy. We have previously confirmed using forward dynamics simulations of human musculoskeletal models that an increased muscle tone promotes the use of ankle strategies. The objective of the present study was to experimentally evaluate a hypothesis: an increased muscle tone promotes the use of ankle strategies. Do changes in the muscle tone affect the use of ankle strategies? Participants were asked to maintain their standing posture on a movable platform sliding horizontally at several accelerations. Postural reactions for support surface translations were examined under three instructions with or without handgrips: relax state, squeezing a handgrip, and an increased muscle tone of the whole body. Surface-electromyography and marker locations of joints were measured to calculate the index of muscle tone and postural control strategies. The relationship of the indexes was evaluated based on correlation coefficients. In half of the conditions, weak negative correlations were noted between the muscle tone index and postural control strategy index. In other words, an increased muscle tone rather promoted the use of the ankle strategy than the hip strategy. These findings are consistent with our previous simulation results. The results recognized a positive response to the research question. This suggests that it is crucial to take muscle tone into account to understand postural control strategies.