Project description:Many therapeutic and illicit drugs can cause movement disorders Antipsychotics and antiemetics are most commonly implicated: The time of onset of the movement disorder may be acute subacute or chronic The severity can range from mild to severe and life-threatening: Early recognition of a drug-induced movement disorder is essential to allow for prompt intervention This includes stopping the offending drug supportive care and sometimes other pharmacological treatment:
Project description:Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous group of movement disorders characterized by episodic involuntary movements (dystonia, dyskinesia, chorea and/or ataxia). Historically, PxMDs were classified clinically (triggers and characteristics of the movements) and this directed single-gene testing. With the advent of next-generation sequencing (NGS), how we classify and investigate PxMDs has been transformed. Next-generation sequencing has enabled new gene discovery (RHOBTB2, TBC1D24), expansion of phenotypes in known PxMDs genes and a better understanding of disease mechanisms. However, PxMDs exhibit phenotypic pleiotropy and genetic heterogeneity, making it challenging to predict genotype based on the clinical phenotype. For example, paroxysmal kinesigenic dyskinesia is most commonly associated with variants in PRRT2 but also variants identified in PNKD, SCN8A, and SCL2A1. There are no radiological or biochemical biomarkers to differentiate genetic causes. Even with NGS, diagnosis rates are variable, ranging from 11 to 51% depending on the cohort studied and technology employed. Thus, a large proportion of patients remain undiagnosed compared to other neurological disorders such as epilepsy, highlighting the need for further genomic research in PxMDs. Whole-genome sequencing, deep-sequencing, copy number variant analysis, detection of deep-intronic variants, mosaicism and repeat expansions, will improve diagnostic rates. Identifying the underlying genetic cause has a significant impact on patient care, modification of treatment, long-term prognostication and genetic counseling. This paper provides an update on the genetics of PxMDs, description of PxMDs classified according to causative gene rather than clinical phenotype, highlighting key clinical features and providing an algorithm for genetic testing of PxMDs.
Project description:BackgroundIn-person didactic education in residency has numerous challenges including inconsistent availability of faculty and residents, limited engagement potential, and non-congruity with clinical exposure.MethodsAn online curriculum in movement disorders was implemented across nine neurology residency programs (six intervention, three control), with the objective to determine feasibility, acceptability, and knowledge growth from the curriculum. Residents in the intervention group completed ten modules and a survey. All groups completed pre-, immediate post-, and delayed post-tests.ResultsEighty-six of 138 eligible housestaff (62.3%) in the intervention group completed some modules and 74 completed at least half of modules. Seventy-four, 49, and 30 residents completed the pre-, immediate post-, and delayed post-tests respectively. Twenty-five of 42 eligible control residents (59.5%) completed at least one test. Mean pre-test scores were not significantly different between groups (6.33 vs. 6.92, p = 0.18); the intervention group had significantly higher scores on immediate post- (8.00 vs. 6.79, p = 0.001) and delayed post-tests (7.92 vs. 6.92, p = 0.01). Residents liked having a framework for movement disorders, appreciated the interactivity, and wanted more modules. Residents completed the curriculum over variable periods of time (1-174 days), and at different times of day.DiscussionThis curriculum was feasible to implement across multiple residency programs. Intervention group residents showed sustained knowledge benefit after participating, and residents took advantage of its flexibility in their patterns of module completion. Similar curricula may help to standardize certain types of clinical learning and exposure across residency programs.HighlightsInteractive online tools for resident didactic learning are valuable to residents. Residents learn from interactive online curricula, find the format engaging, and take advantage of the flexibility of online educational tools. Beginner learners appreciate algorithms that help them to approach a new topic.
Project description:ObjectiveThere is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders.MethodsOne hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations.ResultsThe mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12-79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the "knowledge" domain and overall PKQ-BMD scores. The "number of injections" was also positively correlated with KAP performance.ConclusionThis study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients' and carers' KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.
Project description:Epidural spinal cord stimulation (SCS) is currently proposed to treat intractable neuropathic pain. Since the 1970s, isolated cases and small cohorts of patients suffering from dystonia, tremor, painful leg and moving toes (PLMT), or Parkinson’s disease were also treated with SCS in the context of exploratory clinical studies. Despite the safety profile of SCS observed in these various types of movement disorders, the degree of improvement of abnormal movements following SCS has been heterogeneous among patients and across centers in open-label trials, stressing the need for larger, randomized, double-blind studies. This article provides a comprehensive review of both experimental and clinical studies of SCS application in movement disorders.
Project description:Background:Functional movement disorders (FMDs) have been rarely described in the elderly population. Methods:This is a retrospective chart review of elderly patients with FMDs (onset >60 years) attending the movement disorders clinic at a tertiary care teaching institute in India. Results:Out of 117 patients diagnosed with FMD at our center, 18 patients had an onset after the age of 60 years. The male-to-female ratio was 10:8 and the duration of symptoms ranged from 1 day to 5 years. Social (10/18) and physical factors (5/18) with an evident temporal relationship with the onset of FMD were identified in 15 out of 18 patients. Six of them had a past history of depression, anxiety, or other psychiatric illnesses. The tremor was the most frequent phenomenology seen in 11 (61.1%) patients, followed by dystonia in seven (38.8%), choreoballism and tics in two each, and hemifacial spasm and functional gait in one each. Seven patients had more than one phenotype. Discussion:Tremor was the most frequent movement disorder seen in our patients with FMD. Surprisingly, tics (n = 2) and choreoballistic (n = 2) movements were also found in our patients with FMD, which has not been reported previously in an elderly population. Both physical and social factors were identified preceding the development of FMDs in majority of our patients.
Project description:We reported a series of patients who presented with LSP-induced movement disorders specifically, dyskinetic movements. We have presented one case of LSP-induced parkinsonism and summarized ten cases of LSP-induced dyskinesia. The causality of the adverse drug reaction was assessed systematically using a validated rating system, and we extensively qualified the clinical presentation of each case of dyskinesia using a clinical rating scale. We described an unusual case of acute onset LSP-induced parkinsonism in a 56-year-aged female. The mean age of ten patients of LSP-induced dyskinesia was 65.3 years (standard deviation 10.4), and 25% of patients were female. They were consuming suspected medication for a median duration of 13 months (range 1-60 months). We noted LSP-induced dyskinesia was challenging to treat as its resolution is often incomplete even with adequate treatment.
Project description:BackgroundThere is overlap between movement disorders and neuroendocrine abnormalities.Objectives and methodsTo provide a systematic review on the association of thyroid dysfunction and movement disorders. Thyroid physiological function and classical thyroid disorders highlighting typical and atypical manifestations including movement disorders, as well as diagnostic procedures, and treatments are discussed.ResultsHypothyroidism may be associated with hypokinetic and hyperkinetic disorders. There is debate whether their concomitance reflects a causal link, is coincidence, or the result of one unmasking the other. Hypothyroidism-associated parkinsonism may resemble idiopathic Parkinson's disease. Hypothyroidism-associated hyperkinetic disorders mainly occur in the context of steroid-responsive encephalopathy with autoimmune thyroiditis, that is, Hashimoto disease, mostly manifesting with tremor, myoclonus, and ataxia present in 28-80%, 42-65% and 33-65% in larger series. Congenital hypothyroidism manifesting with movement disorders, mostly chorea and dystonia, due to Mendelian genetic disease are rare.Hyperthyroidism on the other hand mostly manifests with hyperkinetic movement disorders, typically tremor (present in three quarters of patients). Chorea (present in about 2% of hyperthyroid patients), dystonia, myoclonus, ataxia and paroxysmal movement disorders, as well as parkinsonism have also been reported, with correlation between movement intensity and thyroid hormone levels.On a group level, studies on the role of thyroid dysfunction as a risk factor for the development of PD remain non-conclusive.ConclusionsIn view of the treatability of movement disorders associated with thyroid disease, accurate diagnosis is important. The pathophysiology remains poorly understood. More detailed case documentation and systematic studies, along with experimental studies are needed.