RESUMO
INTRODUCTION: Functional neurological disorder challenges conventional medical understanding, presenting neurological symptoms without organic explanations. This report delves into the intricate interplay between psychological and physical manifestations, emphasizing the importance of timely diagnosis and intervention and its impact on a patient's mental health and quality of life. CASE PRESENTATION: A 40-year-old single Iranian man was admitted for the third time owing to exacerbation of mood symptoms, including depression, irritability, aggression, suicidal ideation, and movement and sensory problems. The patient's symptoms began with psychological stressors and family conflict, leading to muscle weakness and tremors in the left hand. Over a year, muscle weakness escalated, leading to slow movement, motor impairment in the lower limbs, and reliance on a cane for walking. The patient still exhibited symptoms, such as a mask-like face, stooped walking posture, and a relative improvement of symptoms periodically. At first, the patient was suspected of Parkinson's disease and was placed on levodopa and amantadine. However, the medication was discontinued owing to an unsatisfactory response and the lack of strong evidence in favor of neurological problems on frequent examinations and reviews. Despite multiple hospitalizations, the patient's symptoms remained unresolved. Finally, after years of investigations, based on specialists' recommendations, he was admitted to the psychosomatic ward for diagnostic evaluationele, and he was diagnosed with functional neurological disorder (psychogenic parkinsonism). He underwent pharmacotherapy, electroconvulsive therapy, and psychotherapy. He was discharged with partial improvement of symptoms, but showed periods of relapse and remission during the following years. CONCLUSION: This case study illuminates functional neurological disorder complexities, emphasizing the need for a holistic diagnostic approach. Timely interventions, including psychological support, can alleviate symptoms, reduce healthcare costs, and improve the overall prognosis. The report contributes to evolving functional neurological disorder understanding in psychiatry and neurology. The report underscores early recognition, advocating for comprehensive interventions involving psychiatric support, cognitive-behavioral therapy, and patient psychoeducation.
Assuntos
Doença de Parkinson , Humanos , Masculino , Adulto , Doença de Parkinson/complicações , Doença de Parkinson/psicologia , Doença de Parkinson/terapia , Diagnóstico Diferencial , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/terapia , Transtornos dos Movimentos/psicologia , Qualidade de VidaRESUMO
Movement disorders of the stomatognathic system include oromandibular dystonia (OMD), oral dyskinesia, sleep/awake bruxism, functional (psychogenic) stomatognathic movement disorders (FSMDs), tremors, and hemimasticatory spasm (HMS). Most patients first consult dentists or oral surgeons. The differential diagnoses of these involuntary movements require both neurological and dental knowledge and experience, and some of these movement disorders are likely to be diagnosed as bruxism or temporomandibular disorders (TMDs) by dental professionals. However, excepting movement disorder specialists, neurologists may find it difficult to differentially diagnose these disorders. Patients may visit numerous medical and dental specialties for several years until a diagnosis is made. Therefore, movement disorders of the oral region may represent a blind spot between dentistry and medicine.The present narrative review aimed to describe the clinical characteristics and differential diagnoses of some movement disorders, as well as the problems bridging dentistry and medicine. Movement disorders have the following characteristic clinical features: OMD - task specificity, sensory tricks and the morning benefit; FSMDs - inconsistent and incongruous symptoms, spreading to multiple sites and the lack of sensory tricks; and HMS - the paroxysmal contraction of unilateral jaw-closing muscles, the persistence of symptoms during sleep and the loss of a silent period. A careful differential diagnosis is essential for the adequate and effective treatment of each involuntary movement. Refining the latest definition of bruxism may be necessary to prevent the misdiagnosis of involuntary movements as bruxism.Both dental and medical professionals should take an interest in the movement disorders of the stomatognathic system, and these disorders should be diagnosed and treated by a multidisciplinary team.
Assuntos
Transtornos dos Movimentos , Humanos , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Diagnóstico Diferencial , Bruxismo/fisiopatologia , Transtornos da Articulação Temporomandibular/fisiopatologia , Transtornos da Articulação Temporomandibular/terapia , Distonia/diagnóstico , Distonia/fisiopatologia , Distonia/etiologia , Doenças Estomatognáticas/terapiaRESUMO
Background: Spontaneous intracranial hypotension (SIH), a treatable condition that stems from spinal leakage of cerebrospinal fluid, usually presents with orthostatic headache, nausea, vomiting, dizziness, and tinnitus. A subset of patients, especially those with sagging of brain structures ("brain sagging syndrome"), develop several movement abnormalities. As SIH is treatable with epidural blood patch (EBP), movement disorders neurologists should be familiar with this syndrome. Method: The authors performed a literature search in PubMed in July 2024 using the Boolean phrase- (("Brain sagging")OR("Intracranial hypotension"))AND(((((((((("Movement disorders")OR("Involuntary movements"))OR("Tremor"))OR("Dystonia"))OR("Chorea"))OR("Ballismus"))OR("Myorhythmia"))OR ("Tic"))OR("Ataxia"))OR("Parkinsonism")). Result: We tabulated 21 case reports/series that highlighted the presence of movement disorders. The most reported phenomenology is gait unsteadiness. While it usually emerges in the background of the classic SIH symptoms, rarely, patients may present with isolated gait dysfunction. Tremor is the second most reported phenomenology with postural and kinetic tremor being the common subtypes. Holmes tremor has also been reported in SIH. Other reported phenomenologies are parkinsonism, chorea, and dystonia. One study reported a unique phenomenology i.e. compulsive repetitive flexion and breath holding in 35.3% of the patients. In majority of the patients, EBP resulted in substantial clinical and radiological improvement. Discussion: Brain sagging syndrome due to SIH may present with a wide range of movement disorders. Mechanical distortion of the posterior fossa and subcortical structures result in the emergence of such movement abnormality. SIH adds to the list of conditions that result in "treatable movement disorders." Therefore, movement disorders neurologists should be versed with the diagnosis and clinical features of this condition.
Assuntos
Hipotensão Intracraniana , Transtornos dos Movimentos , Humanos , Hipotensão Intracraniana/complicações , Hipotensão Intracraniana/fisiopatologia , Hipotensão Intracraniana/diagnóstico por imagem , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/etiologia , Placa de Sangue Epidural , SíndromeRESUMO
Motor dysfunction, which includes changes in gait, balance, and/or functional mobility, is a lesser-known feature of Alzheimer's Disease (AD), especially as it relates to the development of neuropsychiatric symptoms (NPS). This study (1) compared rates of NPS between autopsy-confirmed AD patients with and without early-onset motor dysfunction and (2) compared rates of non-AD dementia autopsy pathology (Lewy Body disease, Frontotemporal Lobar degeneration) between these groups. This retrospective longitudinal cohort study utilized National Alzheimer's Coordinating Center (NACC) data. Participants (N = 856) were required to have moderate-to-severe autopsy-confirmed AD, Clinical Dementia Rating-Global scores of ≤1 at their index visit, and NPS and clinician-rated motor data. Early motor dysfunction was associated with significantly higher NPI-Q total scores (T = 4.48, p < .001) and higher odds of delusions (OR [95%CI]: 1.73 [1.02-2.96]), hallucinations (2.45 [1.35-4.56]), depression (1.51 [1.11-2.06]), irritability (1.50 [1.09-2.08]), apathy (1.70 [1.24-2.36]), anxiety (1.38 [1.01-1.90]), nighttime behaviors (1.98 [1.40-2.81]), and appetite/eating problems (1.56 [1.09-2.25]). Early motor dysfunction was also associated with higher Lewy Body disease pathology (1.41 [1.03-1.93]), but not Frontotemporal Lobar degeneration (1.10 [0.71-1.69]), on autopsy. Our results suggest that motor symptoms in early AD are associated with a higher number and severity of NPS, which may be partially explained by comorbid non-AD neuropathology.
Assuntos
Doença de Alzheimer , Autopsia , Humanos , Doença de Alzheimer/patologia , Doença de Alzheimer/fisiopatologia , Masculino , Feminino , Idoso , Estudos Retrospectivos , Idoso de 80 Anos ou mais , Estudos Longitudinais , Doença por Corpos de Lewy/patologia , Doença por Corpos de Lewy/fisiopatologia , Degeneração Lobar Frontotemporal/patologia , Degeneração Lobar Frontotemporal/fisiopatologia , Alucinações/fisiopatologia , Alucinações/etiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/etiologia , Delusões/fisiopatologia , Delusões/etiologia , Delusões/patologiaRESUMO
This study aims to describe movement disorders secondary to cocaine use. To our knowledge, while these presentations have been previously reported in the literature, a comprehensive review has not been published yet. We searched six databases from 1986 to 2022 without language restriction. Case reports, case series, and literature reviews have been analysed to find associations between cocaine use and movement disorders. The present study encompasses epidemiology, clinical manifestations, pathophysiology, and diagnostic challenges of abnormal movements associated with cocaine use. This review highlights the importance of proper initial evaluation and investigation taking into account the broad spectrum of differential diagnoses and exclusion of primary movement disorders. The role of the dopaminergic system in movement disorders is reviewed. Cocaine use is associated with movement disorders such as dystonia, parkinsonism, akathisia, and tics. The complex interaction of multiple factors, including other neurological conditions, such as Tourette syndrome, and additional substances of abuse is discussed. The presentation of these manifestations is often heterogeneous and does not follow a specific pattern. In this way, future research is needed to improve our understanding of the pathophysiological mechanisms and develop novel drug targets for these disorders. Increased awareness among the general public and policymakers could translate into reduced stigma and improved care.
Assuntos
Transtornos dos Movimentos , Humanos , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos Relacionados ao Uso de Cocaína/complicações , Transtornos Relacionados ao Uso de Cocaína/epidemiologia , Cocaína/efeitos adversosRESUMO
BACKGROUND: Parkinson's disease (PD), the second most prevalent neurological disorder in the elderly, manifests with distinctive movement disorders, including bradykinesia, resting tremor, and stiffness. With a progressive course, current treatment strategies primarily target symptomatic relief. Crocin is a chemical compound isolated from the dry stigma of Crocus sativus, and has demonstrated neuroprotective properties. OBJECTIVES: This study explores the impact of crocin on movement disorders and neuronal oxidative DNA damage in PD patients. METHOD: Conducted as a randomized, blinded, and controlled trial, this research focused on patients aged 30 to 80 with idiopathic PD. Using the second and third parts of the movement disorder society-unified PD rating scale (MDS-UPDRS), aspects of daily life activity and movement disorders were assessed before and after an 8-week intervention. Patients in the crocin groups received capsules containing 30 mg of crocin twice daily. Additionally, the 8-hydroxy-2-deoxydiguanosine (8-OHdG) to urinary creatinine ratio (8-OHdG/uCr) was measured to evaluate neuronal oxidative DNA damage. RESULTS: Out of the initially evaluated 164 patients, 30 were randomly assigned to each group, with 53 subjects completing the study. Within-group analysis revealed a significant improvement in the second and third parts of MDS-UPDRS after 8 weeks of crocin intervention (P < 0.05). However, the 8-OHdG/uCr did not show significant changes. The well-tolerated daily dose of 60 mg of crocin demonstrated minimal side effects. CONCLUSION: This study establishes the efficacy of crocin in enhancing daily life activities and mitigating movement disorders, suggesting its potential as a supplementary intervention alongside conventional PD medications.
Assuntos
Carotenoides , Dano ao DNA , Estresse Oxidativo , Doença de Parkinson , Humanos , Carotenoides/farmacologia , Carotenoides/administração & dosagem , Masculino , Feminino , Idoso , Doença de Parkinson/tratamento farmacológico , Dano ao DNA/efeitos dos fármacos , Pessoa de Meia-Idade , Estresse Oxidativo/efeitos dos fármacos , Idoso de 80 Anos ou mais , Adulto , 8-Hidroxi-2'-Desoxiguanosina , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/etiologia , Método Simples-CegoRESUMO
A 32-year old lady with AQP4-Antibody positive neuromyelitis optica developed a new-onset complex movement disorder after therapeutic plasma exchange, which was initially suspected to be hypocalcemic carpo-pedal spasm. However, when her bilateral, distal predominant, paroxysmal, stereotypic, wrist and finger flexor tonic contractions did not respond to serum calcium correction, other diagnoses were considered. The patient had a dramatic response to oral carbamazepine suggesting that the tonic spasms were likely a spinal movement disorder due to the primary demyelinating pathology.
Assuntos
Troca Plasmática , Humanos , Feminino , Adulto , Troca Plasmática/métodos , Transtornos dos Movimentos/etiologia , Neuromielite Óptica/fisiopatologiaRESUMO
PURPOSE OF REVIEW: This review aimed to comprehensively outline sleep and circadian rhythm abnormalities in hyperkinetic movement disorders beyond Parkinson's disease and atypical parkinsonisms, including tremor, dystonia, choreiform movements, tics, and ataxia disorders. RECENT FINDINGS: Insomnia, poor sleep quality, and excessive daytime sleepiness (EDS) are commonly reported in essential tremor, Wilson's disease, tics or Tourette's syndrome, and spinocerebellar ataxia (SCA). REM sleep behavior disorder (RBD) have been observed in Wilson's disease and SCA. A combination of REM and non-REM parasomnias, along with nocturnal stridor with the initiation of sleep and re-entering after awakening, are characterized by undifferentiated Non-REM and poorly structured N2 in anti-IgLON5 disease. Restless legs syndrome (RLS) has been reported commonly in SCAs. Sleep-related dyskinesia has been reported in ADCY5-related disease and GNAO1-related movement disorder. SUMMARY: Sleep problems can manifest as a result of movement disorders, either through direct motor disturbances or secondary nonmotor symptoms. Medication effects must be considered, as certain medications for movement disorders can exacerbate or alleviate sleep disturbances. Distinguishing sleep problems in some diseases might involve pathognomonic symptoms and signs, aiding in the diagnosis of movement disorders.
Assuntos
Transtornos dos Movimentos , Transtornos do Sono-Vigília , Humanos , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/etiologia , Transtornos do Sono-Vigília/fisiopatologia , Transtornos do Sono-Vigília/complicações , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Transtornos Cronobiológicos/fisiopatologia , Transtornos Cronobiológicos/complicaçõesRESUMO
Malfunction of the basal ganglia leads to movement disorders such as Parkinson's disease, dystonia, Huntington's disease, dyskinesia, and hemiballism, but their underlying pathophysiology is still subject to debate. To understand their pathophysiology in a unified manner, we propose the "dynamic activity model", on the basis of alterations of cortically induced responses in individual nuclei of the basal ganglia. In the normal state, electric stimulation in the motor cortex, mimicking cortical activity during initiation of voluntary movements, evokes a triphasic response consisting of early excitation, inhibition, and late excitation in the output stations of the basal ganglia of monkeys, rodents, and humans. Among three components, cortically induced inhibition, which is mediated by the direct pathway, releases an appropriate movement at an appropriate time by disinhibiting thalamic and cortical activity, whereas early and late excitation, which is mediated by the hyperdirect and indirect pathways, resets on-going cortical activity and stops movements, respectively. Cortically induced triphasic response patterns are systematically altered in various movement disorder models and could well explain the pathophysiology of their motor symptoms. In monkey and mouse models of Parkinson's disease, cortically induced inhibition is reduced and prevents the release of movements, resulting in akinesia/bradykinesia. On the other hand, in a mouse model of dystonia, cortically induced inhibition is enhanced and releases unintended movements, inducing involuntary muscle contractions. Moreover, after blocking the subthalamic nucleus activity in a monkey model of Parkinson's disease, cortically induced inhibition is recovered and enables voluntary movements, explaining the underlying mechanism of stereotactic surgery to ameliorate parkinsonian motor signs. The "dynamic activity model" gives us a more comprehensive view of the pathophysiology underlying motor symptoms of movement disorders and clues for their novel therapies.
Assuntos
Transtornos dos Movimentos , Humanos , Animais , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/etiologia , Camundongos , Gânglios da Base/fisiopatologia , Modelos Animais de Doenças , Doença de Parkinson/fisiopatologiaRESUMO
BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a complication of measles, occurring after a latency of 4-10 years. It continues to occur in developing countries although resurgence is being reported from developed countries. Characteristic features include progressive neuropsychiatric issues, myoclonus, seizures, movement disorders and visual impairment. Electroencephalography (EEG) typically shows periodic generalized discharges, and elevated CSF anti-measles antibodies are diagnostic. Movement disorders are being increasingly recognized as part of the clinical spectrum, and range from hyperkinetic (chorea, dystonia, tremor, tics) to hypokinetic (parkinsonism) disorders and ataxia. OBJECTIVES: This article aims to comprehensively review the spectrum of movement disorders associated with SSPE. METHODS: A literature search was conducted in PubMed and EMBASE databases in December 2023 and articles were identified for review. RESULTS: Movement disorders reported in SSPE included hyperkinetic (chorea, dystonia, tremor and tics), hypokinetic (parkinsonism), ataxia and extraocular movement disorders. Myoclonus, a core clinical feature, was the most frequent "abnormal movement." Movement disorders were observed in all clinical stages, and could also be a presenting feature, even sans myoclonus. Hyperkinetic movement disorders were more common than hypokinetic movement disorders. An evolution of movement disorders was observed, with ataxia, chorea and dystonia occurring earlier, and parkinsonism later in the disease. Neuroradiological correlates of movement disorders remained unclear. CONCLUSION: A wide spectrum of movement disorders was observed throughout the clinical stages of SSPE. Most data were derived from case reports and small case series. Multicentric longitudinal studies are required to better delineate the spectrum and evolution of movement disorders in SSPE.
Assuntos
Transtornos dos Movimentos , Panencefalite Esclerosante Subaguda , Humanos , Coreia/etiologia , Coreia/fisiopatologia , Coreia/diagnóstico , Distonia/etiologia , Distonia/fisiopatologia , Eletroencefalografia , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/diagnóstico , Mioclonia/etiologia , Mioclonia/fisiopatologia , Panencefalite Esclerosante Subaguda/complicações , Panencefalite Esclerosante Subaguda/diagnóstico , Panencefalite Esclerosante Subaguda/fisiopatologia , Tremor/etiologiaRESUMO
Children with developmental and epileptic encephalopathies often present with co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX-associated epilepsy-dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic and management challenges of ARX-related disorder and shed light on broader challenges concerning epilepsy-dyskinesia syndromes.
Assuntos
Proteínas de Homeodomínio , Transtornos dos Movimentos , Fatores de Transcrição , Humanos , Masculino , Feminino , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Pré-Escolar , Proteínas de Homeodomínio/genética , Fatores de Transcrição/genética , Lactente , Mutação de Sentido Incorreto , CriançaRESUMO
Background: Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and parkinsonism have also been described. This review aims to evaluate the array of movement disorders in SSPE, correlating them with neuroimaging findings, disease stages, and patient outcomes. Methods: A comprehensive review of published case reports and case series was conducted on patients with SSPE exhibiting movement disorders other than periodic myoclonus. PRISMA guidelines were followed, and the protocol was registered with PROSPERO (2023 CRD42023434650). A comprehensive search of multiple databases yielded 37 reports detailing 39 patients. Dyken's criteria were used for SSPE diagnosis, and the International Movement Disorders Society definitions were applied to categorize movement disorders. Results: The majority of patients were male, with an average age of 13.8 years. Approximately, 80% lacked a reliable vaccination history, and 39% had prior measles infections. Dystonia was the most common movement disorder (49%), followed by parkinsonism and choreoathetosis. Rapid disease progression was noted in 64% of cases, with a disease duration of ≤6 months in 72%. Neuroimaging showed T2/FLAIR MR hyperintensities, primarily periventricular, with 26% affecting the basal ganglia/thalamus. Brain biopsies revealed inflammatory and neurodegenerative changes. Over half of the patients (56%) reached an akinetic mute state or died. Conclusion: SSPE is associated with diverse movement disorders, predominantly hyperkinetic. The prevalence of dystonia suggests basal ganglia dysfunction.
Assuntos
Transtornos dos Movimentos , Panencefalite Esclerosante Subaguda , Humanos , Coreia/fisiopatologia , Coreia/diagnóstico por imagem , Coreia/etiologia , Distonia/fisiopatologia , Distonia/etiologia , Hipercinese/fisiopatologia , Hipercinese/etiologia , Hipocinesia/fisiopatologia , Hipocinesia/etiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/etiologia , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/fisiopatologia , Panencefalite Esclerosante Subaguda/fisiopatologia , Panencefalite Esclerosante Subaguda/diagnóstico por imagem , Panencefalite Esclerosante Subaguda/complicações , Relatos de Casos como Assunto , Masculino , Feminino , AdolescenteRESUMO
BACKGROUND AND AIMS: Acute onset de novo movement disorder is an increasingly recognized, yet undereported complication of diabetes. Hyperglycemia can give rise to a range of different movement disorders, hemichorea-hemiballism being the commonest. This article delves into the current knowledge about this condition, its diverse presentations, ongoing debates regarding its underlying mechanisms, disparities between clinical and radiological findings, and challenges related to its management. METHODS: PubMed and Google Scholar were searched with the following key terms- "diabetes", "striatopathy", "hyperglycemia", "striatum", "basal ganglia", "movement disorder", "involuntary movement". Case reports, systematic reviews, meta-analysis, and narrative reviews published in English literature related to the topic of interest from January 1, 1950, to October 20, 2023, were retrieved. The references cited in the chosen articles were also examined, and those considered relevant were included in the review. RESULTS: Diabetic striatopathy is the prototype of movement disorders associated with hyperglycemia with its characteristic neuroimaging feature (contralateral striatal hyperdensitity on computed tomography or hyperintensity on T1-weighted magnetic resonance imaging). Risk factors for diabetic striatopathy includes Asian ethnicity, female gender, prolonged poor glycemic control, and concurrent retinopathy. Several hypotheses have been proposed to explain the pathophysiology of movement disorders induced by hyperglycemia. These hypotheses are not mutually exclusive; instead, they represent interconnected pathways contributing to the development of this unique condition. While the most prominent clinical feature of diabetic striatopathy is a movement disorder, its phenotypic expression has been found to extend to other manifestations, including stroke, seizures, and cognitive and behavioral symptoms. Fortunately, the prognosis for diabetic striatopathy is generally excellent, with complete resolution achievable through the use of anti-hyperglycemic therapy alone or in combination with neuroleptic medications. CONCLUSION: Hyperglycemia is the commonest cause of acute onset de novo movement disorders presenting to a range of medical specialists. So, it is of utmost importance that the physicians irrespective of their speciality remain aware of this clinical entity and check blood glucose at presentation before ordering any other investigations. Prompt clinical diagnosis of this condition and implementation of intensive glycemic control can yield significant benefits for patients.
Assuntos
Hiperglicemia , Transtornos dos Movimentos , Humanos , Transtornos dos Movimentos/etiologia , Complicações do Diabetes , PrognósticoRESUMO
Drug-induced movement disorders (DIMDs) are associated with use of dopamine receptor blocking agents (DRBAs), including antipsychotics. The most common forms are drug-induced parkinsonism (DIP), dystonia, akathisia, and tardive dyskinesia (TD). Although rare, neuroleptic malignant syndrome (NMS) is a potentially life-threatening consequence of DRBA exposure. Recommendations for anticholinergic use in patients with DIMDs were developed on the basis of a roundtable discussion with healthcare professionals with extensive expertise in DIMD management, along with a comprehensive literature review. The roundtable agreed that "extrapyramidal symptoms" is a non-specific term that encompasses a range of abnormal movements. As such, it contributes to a misconception that all DIMDs can be treated in the same way, potentially leading to the misuse and overprescribing of anticholinergics. DIMDs are neurobiologically and clinically distinct, with different treatment paradigms and varying levels of evidence for anticholinergic use. Whereas evidence indicates anticholinergics can be effective for DIP and dystonia, they are not recommended for TD, akathisia, or NMS; nor are they supported for preventing DIMDs except in individuals at high risk for acute dystonia. Anticholinergics may induce serious peripheral adverse effects (e.g., urinary retention) and central effects (e.g., impaired cognition), all of which can be highly concerning especially in older adults. Appropriate use of anticholinergics therefore requires careful consideration of the evidence for efficacy (e.g., supportive for DIP but not TD) and the risks for serious adverse events. If used, anticholinergic medications should be prescribed at the lowest effective dose and for limited periods of time. When discontinued, they should be tapered gradually.
Assuntos
Antipsicóticos , Distonia , Distúrbios Distônicos , Transtornos dos Movimentos , Síndrome Maligna Neuroléptica , Discinesia Tardia , Humanos , Idoso , Distonia/induzido quimicamente , Distonia/tratamento farmacológico , Antagonistas Colinérgicos/efeitos adversos , Agitação Psicomotora/tratamento farmacológico , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/etiologia , Discinesia Tardia/induzido quimicamente , Discinesia Tardia/tratamento farmacológico , Antipsicóticos/efeitos adversosRESUMO
OBJECTIVE: Variants in the ATP1A2 gene exhibit a wide clinical spectrum, ranging from familial hemiplegic migraine to childhood epilepsies and early infantile developmental epileptic encephalopathy (EIDEE) with movement disorders. This study aims to describe the epileptology of three unpublished cases and summarize epilepsy features of the other 17 published cases with ATP1A2 variants and EIDEE. METHODS: Medical records of three novel patients with pathogenic ATP1A2 variants were retrospectively reviewed. Additionally, the PUBMED, EMBASE, and Cochrane databases were searched until December 2023 for articles on EIDEE with ATP1A2 variants, without language or publication year restrictions. RESULTS: Three female patients, aged 6 months-10 years, were investigated. Epilepsy onset occurred between 5 days and 2 years, accompanied by severe developmental delay, intellectual disability, drug-resistant epilepsy, severe movement disorder, and recurrent status epilepticus. All individuals had pathogenic variants of the ATP1A2 gene (ATP1A2 c.720_721del (p.Ile240MetfsTer9), ATP1A2c.3022C > T (p.Arg1008Trp), ATP1A2 c.1096G > T (p.Gly366Cys), according to ACMG criteria. Memantine was p) rescribed to three patients, one with a reduction in ictal frequency, one with improvement in gait pattern, coordination, and attention span, and another one in alertness without significant side effects. SIGNIFICANCE: This study reinforces the association between ATP1A2 variants and a severe phenotype. All patients had de novo variants, focal motor seizures with impaired awareness as the primary type of seizure; of the 11 EEGs recorded, 10 presented a slow background rhythm, 7 multifocal interictal epileptiform discharges (IED), predominantly temporal IEDs, followed by frontal IED, as well as ten ictal recordings, which showed ictal onset from the same regions mentioned above. Treatment with antiseizure medication was generally ineffective, but memantine showed moderate improvement. Prospective studies are needed to enlarge the phenotype and assess the efficacy of NMDA receptor antagonist therapies in reducing seizure frequency and improving quality of life.
Assuntos
Transtornos dos Movimentos , ATPase Trocadora de Sódio-Potássio , Humanos , Feminino , ATPase Trocadora de Sódio-Potássio/genética , Lactente , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/etiologia , Criança , Espasmos Infantis/genética , Espasmos Infantis/fisiopatologia , Espasmos Infantis/tratamento farmacológico , Pré-Escolar , Epilepsia Resistente a Medicamentos/genética , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Resistente a Medicamentos/fisiopatologia , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Estudos Retrospectivos , Memantina/uso terapêuticoRESUMO
New onset movement disorders are a common clinical problem in pediatric neurology and can be infectious, inflammatory, metabolic, or functional in origin. Encephalitis is one of the more important causes of new onset movement disorders, and movement disorders are a common feature (~25%) of all encephalitis. However, all encephalitides are not the same, and movement disorders are a key diagnostic feature that can help the clinician identify the etiology of the encephalitis, and therefore appropriate treatment is required. Movement disorders are a characteristic feature of autoimmune encephalitis such as anti-NMDAR encephalitis, herpes simplex virus encephalitis-induced autoimmune encephalitis, and basal ganglia encephalitis. Other rarer autoantibody-associated encephalitis syndromes with movement disorder associations include encephalitis associated with glycine receptor, DPPX, and neurexin-3 alpha autoantibodies. In addition, movement disorders can accompany acute disseminated encephalomyelitis with and without myelin oligodendrocyte glycoprotein antibodies. Extremely important infectious encephalitides that have characteristic movement disorder associations include Japanese encephalitis, dengue fever, West Nile virus, subacute sclerosing panencephalitis (SSPE), and SARS-CoV-2 (COVID-19). This chapter discusses how specific movement disorder phenomenology can aid clinician diagnostic suspicion, such as stereotypy, perseveration, and catatonia in anti-NMDAR encephalitis, dystonia-Parkinsonism in basal ganglia encephalitis, and myoclonus in SSPE. In addition, the chapter discusses how the age of the patients can influence the movement disorder phenomenology, such as in anti-NMDAR encephalitis where chorea is typical in young children, even though catatonia and akinesia is more common in adolescents and adults.
Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Catatonia , Coreia , Transtornos dos Movimentos , Panencefalite Esclerosante Subaguda , Adolescente , Criança , Pré-Escolar , Humanos , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Autoanticorpos/metabolismo , Transtornos dos Movimentos/etiologia , Panencefalite Esclerosante Subaguda/complicaçõesRESUMO
BACKGROUND: Immune checkpoint inhibitors (ICI) may trigger autoimmune neurological conditions, including movement disorders (MD). OBJECTIVES: The aim of this study was to characterize MDs occurring as immune-related adverse events (irAEs) of ICIs. METHODS: A systematic literature review of case reports/series of MDs as irAEs of ICIs was performed. RESULTS: Of 5682 eligible papers, 26 articles with 28 patients were included. MDs occur as a rare complication of cancer immunotherapy with heterogeneous clinical presentations and in most cases in association with other irAEs. Inflammatory basal ganglia T2/fluid attenuated inversion recovery abnormalities are rarely observed, but brain imaging is frequently unrevealing. Cerebrospinal fluid findings are frequently suggestive of inflammation. Half of cases are associated with a wide range of autoantibodies. Steroids and ICI withdrawal usually lead to improvement, even though some patients experienced relapses or a severe clinical course. CONCLUSION: MDs are a rare complication of ICIs that should be promptly recognized to offer patients a correct diagnosis and treatment.
Assuntos
Inibidores de Checkpoint Imunológico , Transtornos dos Movimentos , Humanos , Inibidores de Checkpoint Imunológico/efeitos adversos , Transtornos dos Movimentos/etiologia , Doenças Autoimunes/induzido quimicamente , Doenças Autoimunes/tratamento farmacológico , Imunoterapia/efeitos adversos , Neoplasias/tratamento farmacológico , Neoplasias/complicaçõesRESUMO
Movement disorders, particularly gait and balance disturbances can lead to falls and reduced daily activities in patients with idiopathic normal pressure hydrocephalus (iNPH). In this study, we investigate movement disorders from both the pathophysiological and kinematic perspectives in patients with iNPH. Additionally, we discuss essential factors that should be evaluated before and after cerebrospinal fluid tap tests and shunt surgeries and considerations for assessment of fall risk in patients with iNPH. Additionally, we describe the most recent findings on rehabilitation of iNPH patients.