Spectrum Of Movement Disorders Research Articles

Prevalence of restless legs syndrome during pregnancy and postpartum period.

Restless legs syndrome (RLS) is a disease from the spectrum of movement disorders, the prevalence of which increases significantly during pregnancy and is associated with poor sleep, a drop in daytime energy, and the development of psychological disorders during pregnancy and the postpartum period. The IRLSS scale was used to determine the presence of RLS symptoms. The total test sample that included the tested and control groups was (n=390) subjects. The examined group consisted of pregnant women (n=260), and the control group consisted of female students (n=130). In total, 260 pregnant women were monitored 6months after pregnancy. Three measurements were performed, first inthe third trimester of pregnancy, second two months afterdelivery, third 6months after delivery, while one cross-sectional measurement was performed for the controlgroup. The prevalence of RLS in pregnancy is highest in the third trimester and amounts to 26.5 %. In the postpartum period, a significant decrease in the prevalence of RLS was observed, measured two months after delivery (18.1 %). Postpartum, over time, a decrease in the prevalence of RLS was noticed, and six months after delivery it was (7.3 %), when it practically approached the prevalence of the control group (standard population) which was (6.2 %). The prevalence of RLS is highest during the third trimester of pregnancy and decreases after delivery so that 6months after delivery it approaches the prevalence of the standard population.

Spectrum of movement disorders, imaging findings in SSPE and response to therapy – A prospective cohort study

Spectrum of movement disorders, imaging findings in SSPE and response to therapy – A prospective cohort study

Spectrum of Movement Disorders in Niemann-Pick Disease Type C.

Introduction:Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder caused by mutations in the NPC 1 or 2 genes. Movement disorders can occur as the first symptom and as predominant symptom mainly in juvenile-onset. The frequency and heterogeneity of movement disorders in NPC are not well described. We studied the frequency and spectrum of movement disorders in patients with NPC of different age of onset.Methods:Retrospective chart review of patients with NPC diagnosed based on the Suspicion Index tool and demonstration of foamy macrophages/sea-blue histiocytes in bone marrow aspirate.Results:We report 9 cases of NPC with 2 patients of late-infantile, 4 juvenile-onset and 3 of adult-onset. The mean age at onset of symptoms was 11.7 ± 10.4 (range 4–38 years) and the median duration of illness was 4 years. Vertical supranuclear gaze palsy (VSGP) was noted in 8 patients and VSGP with slowing of saccade in 1 patient. Splenomegaly was seen in 5 patients. Movement disorders as the first symptom occurred in 4 patients. Dystonia was the first symptom in 2 patients and cerebellar ataxia in 2 patients. Cerebellar ataxia occurred during the course of illness in 5 patients, dystonia in 6 patients. One patient with late-infantile NPC had stimulus-sensitive myoclonus.Conclusion:Movement disorders are common in NPC and occur as a presenting symptom. Cerebellar ataxia and dystonia are the most common movement disorder in NPC. Vertical supranuclear gaze palsy along with the movement disorders should lead to clinical suspicion of NPC.

Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.

Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.

Spectrum of Movement Disorders Among Children With Subacute Sclerosing Panencephalitis: A Cross-Sectional Study.

Background: Subacute sclerosing panencephalitis is a progressive devastating condition due to persistence of mutant measles virus, affecting children and adolescents, characterised by myoclonus, seizures, and neuropsychiatric issues. Movement disorders apart from myoclonus are reportedly uncommon. We aimed to describe frequency and proportion of movement disorders among children with subacute sclerosing panencephalitis, hypothesizing that these occur more frequently than previously reported. Methods: In this cross-sectional study, we enrolled children with subacute sclerosing panencephalitis between 1 month and 18 years of age who fulfilled the diagnosis of subacute sclerosing panencephalitis as per modified Dyken criteria, and examined them for movement disorders. We also assessed their clinical profile and disease severity via Jabbour staging and modified Rankin Scale score. We compared demographic, clinical, and laboratory features of children with and without movement disorders. Results: We enrolled 50 children (36 males; 72%) (age range 1.5-14 years). Of these, 28 (56%) had movement disorders. Among movement disorders, the most frequent was myoclonus (92%), followed by ataxia (9; 18%), chorea-athetosis (7; 14%), dystonia (6; 12%), tremor (4; 8%), repetitive behavior (4; 8%), and parkinsonism (3; 6%). Movement disorders were the presenting feature of subacute sclerosing panencephalitis among 7 children. There were no significant differences in clinical or laboratory features among children with and without movement disorders. Conclusions: Movement disorders were frequent in subacute sclerosing panencephalitis. Hyperkinetic disorders were dominant. Dystonia and chorea-athetosis occurred more commonly among nonmyoclonus movement disorders. Movement disorders may manifest even in earlier stages of subacute sclerosing panencephalitis and may be the heralding feature. Recognition of these features is important to plan management and reduce morbidity.

The Spectrum of Movement Disorders in Anti-N-Methyl-D-Aspartate Receptor (NMDAR) Encephalitis Both in Children and Adults: An Experience From a Single Tertiary Care Center.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a form of autoimmune encephalitis. The characteristic clinical features include seizure, psychosis-like symptoms, abnormal movements, and autonomic disturbances. Patients with anti-NMDAR encephalitis can present with various types of movement disorders. Typically, the movement disorders start following intervals of psychiatric and prodromal manifestations in young adults; however, in children, these might be an early presentation of anti-NMDAR encephalitis. The disease is under-recognized and underdiagnosed in Pakistan. Early recognition of the disease is important to commence timely treatment leading to a better prognosis. Here we present a collection of anti-NMDAR encephalitis patients, specifically focussing on the different types of movement disorders and the differences in clinical manifestations between children and adults.

The Spectrum of Movement Disorders in Neuroacanthocytosis Syndromes: A Video Series.

The Spectrum of Movement Disorders in Neuroacanthocytosis Syndromes: A Video Series.

Spectrum of Movement Disorders and Correlation with Functional Status in Children with Cerebral Palsy.

To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). These scores were classified into mild-moderate (level I-III)/severe (level IV-V) categories. A total of 113 children (mean age 4.9 ± 3.4 y, 66.4% boys) were enrolled. MDs were noted in 52(46%) children; the most frequent were dystonia (28%), chorea (14%), choreoathetosis (8%). Of 64 children with quadriparetic CP, 27 (42.2%) demonstrated MDs. Of 19 children with hemiparetic CP, 2 (10.5%) had MDs. Of 16 children with dyskinetic CP, 15 (93%) had MDs. Children with dyskinetic CP had significantly higher frequency of MDs (p = 0.001). There was no difference in occurrence of all MDsor dystonia aloneamongst the two categories (mild-moderate/severe) of GMFCS E&R levels, CFCS levels or MACS levels. Although diverse MDs occur frequently in CP, these do not correlate with the broad functional status of the child. The study is limited by small sample size.

The Spectrum of Movement Disorders in Cases with Osmotic Demyelination Syndrome.

Osmotic demyelination syndrome (ODS) can be a central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) based on the regions involved even though they share the same disease process, aetiopathogenesis and time course. Present study aims to characterize the clinical, radiological features and the outcome of patients with ODS with movement disorders as the forthcoming manifestation. Chart review of patients with ODS with movement disorders. Demographic, clinical and radiological details of the patients were reviewed. Eleven patients (six females; mean age: 48.3 ± 17.6 years) were included in the study. Parkinsonism alone and parkinsonism with dystonia was noted in four patients each (36.4%) while dystonia alone was noted in the other 3 (27.3%). Five patients (45.5%) had postural tremors. While 5 patients had dystonia early in the course of illness (3-7 days), it was delayed (6-9 months) in the other 2. A triphasic course was noted in two patients. The first phase of hyponatremia induced neurological impairment was followed by a second phase of worsening due to the immediate effect of ODS and a third delayed phase of worsening due to delayed effect of ODS. MRI showed both EPM and CPM in eight patients, EPM alone in two patients and CPM alone in 1 patient. Nine patients had a good outcome with mRS < 3. Parkinsonism and dystonia are important manifestations of ODS. Triphasic course with a delayed phase of worsening of movement disorders is probably due to the maladaptive neuronal repair. The concept of triphasic ODS is first being described in our series.

The Spectrum of Movement Disorders in Tertiary Care Centers in India: A Tale of Three Cities.

Background:Movement disorders constitute a major burden among the neurological disorders. Overall prevalence and distribution of disorders requiring medical resources remain unknown.Objective:To understand the pattern of movement disorders burden in India.Materials and Methods:Retrospective electronic database review of new patients attending movement disorders clinics in three cities from 2012 to 2018 was done.Results:14,561 patients (M:F-9,578:4,983) with mean age at assessment of 60.5 ± 14.9 years (Range: 1–98 years) were analyzed. The major broad syndromic diagnosis included: Parkinsonism (n = 9560, 64.9%), Dystonia (n = 2159, 14.8%), Tremors (n = 1129, 7.7%), Ataxia (n = 475, 3.3%), Chorea (n = 402, 2.7%), Peripheral induced movement disorders (n = 400, 2.7%), Gait Disorders (n = 156, 1.1%), Tics (n = 112, 0.8%), Restless Leg Syndrome (n = 89, 0.6%), and Myoclonus (n = 58, 0.4%). The syndromic diagnosis also included the functional disorders (0.6%).Conclusion:This large database from India show the burden of different movement disorders in tertiary clinics. In addition, it also gives insight into disorders requiring more resources for evaluation and management.

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

BackgroundGNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.ResultsSix patients who participated in Korean Undiagnosed Disease Program were diagnosed to have pathogenic or likely pathogenic variants in GNAO1 using whole exome sequencing. All medical records and personal video clips were analyzed with a literature review. Three of the 6 patients were male. Median follow-up duration was 41 months (range 7–78 months) and age at last examination was 7.4 years (range 3.3–16.9 years). Initial complaints were hypotonia or developmental delay in 5 and right-hand clumsiness in 1 patient, which were noticed at median age of 3 months (range 0–75 months). All patients showed global developmental delay and 4 had severely retarded development. Five patients (5/6, 83.3%) had many different movement symptoms with various onset and progression. The symptoms included stereotyped hands movement, non-epileptic myoclonus, dyskinesia, dystonia and choreoathetosis. Whole exome sequencing identified 6 different variants in GNAO1. Three were novel de novo variants and atypical presentation was noted in a patient. One variant turned out to be inherited from patient’s mother who had mosaic variant. Distinct and characteristics movement phenotypes in patients with variant p.Glu246Lys and p.Arg209His were elucidated by in-depth phenotyping and literature review.ConclusionsWe reported 6 patients with GNAO1 encephalopathy showing an extremely diverse clinical spectrum on video. Some characteristic movement features identified by careful inspection may also provide important diagnostic insight and practice guidelines.

Movement Disorders in Genetic Pediatric Ataxias.

Genetic pediatric ataxias are heterogeneous rare disorders, mainly inherited as autosomal-recessive traits. Most forms are progressive and lack effective treatment, with relevant socioeconomical impact. Albeit ataxia represents the main clinical feature, the phenotype can be more complex, with additional neurological and nonneurological signs being described in several forms. In this review, we provide an overview of the occurrence and spectrum of movement disorders in the most relevant forms of childhood-onset genetic ataxias. All types of hypokinetic and hyperkinetic movement disorders of variable severity have been reported. Movement disorders occasionally represent the symptom of onset, predating ataxia even of a few years and therefore challenging an early diagnosis. Their pathogenesis still remains poorly defined, as it is not yet clear whether movement disorders may directly relate to the cerebellar pathology or result from an extracerebellar dysfunction, including the basal ganglia. Recognition of the complete movement disorder phenotype in genetic pediatric ataxias has important implications for diagnosis, management, and genetic counseling.

Spectrum of movement disorders in mitochondrial diseases

Spectrum of movement disorders in mitochondrial diseases

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome.

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome.

The Spectrum of Movement Disorders in 18-p Deletion Syndrome.

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Spectrum of Movement Disorders in 18p Deletion Syndrome.

Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders. The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome-wide single-nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders. We present a 41-year-old male patient with childhood-onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients. Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.

Proportion and spectrum of movement disorders in adolescent and adult patients of autoimmune encephalitis of non-neoplastic aetiology

We aimed to study the proportion of patients with movement disorders in seropositive autoimmune encephalitis of non-neoplastic aetiology and also to describe the spectrum of movement disorders in them.We prospectively screened 362 patients of age >12 years with encephalitis of unknown aetiology for a panel of antibodies for autoimmune encephalitis. Demographic and clinical characteristics with focus on the movement disorders were recorded. We also evaluated the differences in the spectrum of movement disorder based on various age groups and antibody positivity. Patients were treated with immune modulating drugs and were followed up for 6 months.Out of the 41 patients, 21 (51.2%) patients presented with movement disorder as a part of their clinical presentation. The commonest movement disorder encountered in our cohort was orofaciolingual dyskinesia (OFLD) 57.1% followed by tremor (38.1%), choreoathetosis (33.3%), paroxysmal dyskinesia (23.8%) stereotypies (14.3%), bradykinesia (13.1%), followed by dystonia (13.1%), catatonia (4.7%), neuromyotonia (4.7%) ballism (4.7%), ataxia (4.7%) and stiff person phenotype (4.7%). The hyperkinetic movement disorders were more commonly seen compared to hypokinetic disorders. All patients received immunomodulatory therapy. On follow, 17 (80.1%) patients had good response with total remission of the movement disorder. Four patients did not have total remission but significant improvement in the symptoms after 6 months of follow up.Our study shows that >50% of patients with antibody positive autoimmune encephalitis have movement disorder as a part of their clinical feature. Timely institution of immunotherapy leads to good outcome in majority of patients.

Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum.

Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Initial manifestations of Ataxia-telangiectasia include cerebellar symptoms (67%), dystonia (18%), choreoathetosis (10%), and tremor (4%), with parkinsonism and myoclonus not reported as initial features. The prevalence of movement disorders during the course of the disease includes cerebellar symptoms (96%), dystonia (89%), parkinsonism (41%), choreoathetosis (89%), myoclonus (92%), and tremor (74%). Phenomenology and age of onset is modulated by presence of residual ATM kinase activity, with genotypes heavily truncating the ATM protein associated with the most severe phenotypes. Ataxia-telangiectasia commonly results in a spectrum of movement disorders beyond ataxia and telangiectasias. © 2018 International Parkinson and Movement Disorder Society.

Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.

Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Initial manifestations of Ataxia-telangiectasia include cerebellar symptoms (67%), dystonia (18%), choreoathetosis (10%), and tremor (4%), with parkinsonism and myoclonus not reported as initial features. The prevalence of movement disorders during the course of the disease includes cerebellar symptoms (96%), dystonia (89%), parkinsonism (41%), choreoathetosis (89%), myoclonus (92%), and tremor (74%). Phenomenology and age of onset is modulated by presence of residual ATM kinase activity, with genotypes heavily truncating the ATM protein associated with the most severe phenotypes. Ataxia-telangiectasia commonly results in a spectrum of movement disorders beyond ataxia and telangiectasias. © 2018 International Parkinson and Movement Disorder Society.

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Movement disorders are a significant clinical problem in lysosomal storage diseases (LSD) and account for substantial morbidity. The spectrum of movement disorders in childhood-onset LSD, however, remains poorly defined. To define the spectrum of movement disorders in a well-characterized cohort of children with LSD. A retrospective chart review at a single tertiary care center (Boston Children's Hospital, Boston, MA, USA). Patients up to the age of 18 years with a clinical, genetic and/or biochemical diagnosis of an LSD and at least one predefined movement disorder (parkinsonism, dystonia, ataxia, tremor, chorea, myoclonus, ballism, restless leg syndrome) were included. 96 patients were identified and 76 patients had a sufficiently document biochemical and/or genetic diagnosis. Of these, 18 patients met inclusion criteria (mean age: 10.3±5.8 (SD) years, range: 3-18 years; 72% male). The most common LSD associated with a movement disorder was Niemann-Pick disease type C (NPC), followed by several types of neuronal ceroid lipofuscinosis (NCL) and different mucopolysaccharidoses. The most common movement disorder was ataxia followed by rest tremor, dystonia and myoclonus. The other predefined movement disorders were rare. The majority of patients presented with more than one movement disorder. The movement disorder was slowly progressive in all patients. Brain MRI changes included diffuse cerebral volume loss, white matter abnormalities with thinning of the corpus callosum, and cerebellar atrophy. Movement disorders develop in a significant number of LSD patients. Ataxia, often in patients with NPC and NCL, is the most common phenotype but significant heterogeneity exists within and between different LSD.