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2.
J Neurol Sci ; 463: 123136, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-39024744

RESUMEN

OBJECTIVE: Despite high COVID-19 vaccination rates in many populations, concerns persist about potential adverse events, including concerns about involuntary movements. While case studies have shown occurrences of involuntary movements following COVID-19 vaccination, no systematic studies have explored this association. Our study aims to investigate the relationship between COVID-19 vaccination and involuntary movements. METHODS: This study employs a longitudinal panel design. The study population consists of 165,834 responses from a total of 97,537 unique individuals sourced from the BiCoVac cohort, which is a randomly sampled cohort of Danish individuals aged 16 to 65. Data were collected through a combination of questionnaires and national registers, and analyses were conducted using mixed effects logistic regression. RESULTS: Vaccinated individuals had lower odds of reporting involuntary movements compared to non-vaccinated individuals. Although adjustments attenuated the results, a consistent pattern of lower odds was observed among the vaccinated individuals. The strongest association for the first dose was observed in individuals who received the vaccine within the last 4 weeks before reporting symptoms (OR = 0.72 (0.60; 0.85)). For the second dose, the strongest association was found in individuals who received the second vaccine dose more than 4 weeks before reporting symptoms (OR = 0.77 (0.65; 0.91)). CONCLUSION: The results of the study do not indicate involuntary movements as an adverse reaction to the COVID-19 vaccine. These findings support the safety profile of the COVID-19 vaccine concerning involuntary movements and contribute to enhancing public trust in vaccination programs.


Asunto(s)
Vacunas contra la COVID-19 , COVID-19 , Humanos , Masculino , Estudios Longitudinales , Adulto , Femenino , Persona de Mediana Edad , Vacunas contra la COVID-19/efectos adversos , Adolescente , Anciano , Adulto Joven , COVID-19/prevención & control , COVID-19/epidemiología , Dinamarca/epidemiología , Discinesias/etiología , Discinesias/epidemiología , Vacunación/efectos adversos , Estudios de Cohortes
3.
Medicine (Baltimore) ; 103(26): e38733, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38941386

RESUMEN

BACKGROUND: Dyskinesia is one of the most common complications of stroke. Acupuncture therapy (AT) and mirror therapy (MT) are promising rehabilitation measures for the treatment of post-stroke dyskinesia. Although some studies suggested that AT and MT are effective and safe for dyskinesia, the effects, and safety remain uncertain due to lacking strong evidence. The purpose of this study is to investigate the efficacy and safety of AT combined with MT in the treatment of post-stroke dyskinesia. METHODS: We searched the following databases: PubMed, Web of Science, Cochrane Library, EMBASE, Medline, China Knowledge Network, WANFANG, and China Biomedical Literature Database, from inception to 1 January 2023 to identify eligible studies. Total effective rate, the Fugl-Meyer assessment scale (FMA) upper and lower limb scores, modified Barthel index scores, Berg balance scale, modified Ashworth scale, and adverse reactions were adopted as outcome indicators. The Grading of Recommendations Assessment Development and Evaluation system was used by 2 independent reviewers to assess the quality of evidence for the outcome indicators included in the study. The statistical analysis was conducted by RevMan V.5.4 software. RESULTS: A total of 24 randomized controlled studies included 2133 patients with post-stroke dyskinesia were included. The total effective rate of AT combined with MT was more advantageous in the treatment of post-stroke dyskinesia (relative risk = 1.31, 95% confidence interval [CI] [1.22-1.42], Z = 6.96, P < .0001). AT combined with MT was more advantageous for FMA upper limb score (mean difference [MD] = 6.67, 95% CI [5.21-8.13], Z = 8.97, P < .00001) and FMA lower limb score (MD = 3.72, 95% CI [2.81-4.63], Z = 7.98, P < .00001). Meta-analysis showed that AT combined with MT for post-stroke dyskinesia had a more advantageous modified Barthel index score (MD = 9.51, 95% CI [7.44-11.58], Z = 9.01, P < .00001). CONCLUSION: AT combined with MT is effective in improving motor function and daily living ability of patients, especially in improving muscle spasms. However, these results should be regarded with caution given the low quality of evidence for the evaluation results.


Asunto(s)
Terapia por Acupuntura , Discinesias , Accidente Cerebrovascular , Humanos , Terapia por Acupuntura/métodos , Accidente Cerebrovascular/complicaciones , Discinesias/etiología , Discinesias/terapia , Rehabilitación de Accidente Cerebrovascular/métodos , Ensayos Clínicos Controlados Aleatorios como Asunto , Terapia Combinada , Resultado del Tratamiento
4.
Neurosci Biobehav Rev ; 162: 105719, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38759470

RESUMEN

To improve the initiation and speed of intended action, one of the crucial mechanisms is suppressing unwanted movements that interfere with goal-directed behavior, which is observed relatively aberrant in Parkinson's disease patients. Recent research has highlighted that dopamine deficits in Parkinson's disease predominantly occur in the caudal lateral part of the substantia nigra pars compacta (SNc) in human patients. We previously found two parallel circuits within the basal ganglia, primarily divided into circuits mediated by the rostral medial part and caudal lateral part of the SNc dopamine neurons. We have further discovered that the indirect pathway in caudal basal ganglia circuits, facilitated by the caudal lateral part of the SNc dopamine neurons, plays a critical role in suppressing unnecessary involuntary movements when animals perform voluntary goal-directed actions. We thus explored recent research in humans and non-human primates focusing on the distinct functions and networks of the caudal lateral part of the SNc dopamine neurons to elucidate the mechanisms involved in the impairment of suppressing involuntary movements in Parkinson's disease patients.


Asunto(s)
Dopamina , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/fisiopatología , Animales , Dopamina/metabolismo , Neuronas Dopaminérgicas , Discinesias/etiología , Discinesias/fisiopatología , Vías Nerviosas/fisiopatología
5.
BMJ Case Rep ; 17(5)2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38782432

RESUMEN

We report the case of a man in his mid-80s with diabetes mellitus who presented to the emergency department with a 1-day history of right-sided choreiform movements and falls. Laboratory tests revealed blood glucose of 597 mg/dL. Non-contrast CT imaging of his head demonstrated a faint hyperdensity involving the left lentiform nucleus and brain MRI showed a hyperintensity in the left basal ganglia on T1-weighted images. These lesions are typical of diabetic striatopathy. Symptoms of hemichorea/hemiballismus did not resolve with glycaemic control and several pharmacological agents were tried with eventual improvement with risperidone. He was discharged to a rehabilitation facility and had mild persistent arm chorea at 6-month follow-up.


Asunto(s)
Corea , Discinesias , Humanos , Masculino , Corea/etiología , Corea/tratamiento farmacológico , Corea/diagnóstico , Discinesias/etiología , Discinesias/tratamiento farmacológico , Anciano de 80 o más Años , Risperidona/uso terapéutico , Imagen por Resonancia Magnética , Antipsicóticos/uso terapéutico , Complicaciones de la Diabetes , Diabetes Mellitus Tipo 2/complicaciones , Tomografía Computarizada por Rayos X
7.
Mov Disord Clin Pract ; 11(6): 686-697, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38587023

RESUMEN

BACKGROUND: Motor complications are well recognized in Parkinson's disease (PD), but their reported prevalence varies and functional impact has not been well studied. OBJECTIVES: To quantify the presence, severity, impact and associated factors for motor complications in PD. METHODS: Analysis of three large prospective cohort studies of recent-onset PD patients followed for up to 12 years. The MDS-UPDRS part 4 assessed motor complications and multivariable logistic regression tested for associations. Genetic risk score (GRS) for Parkinson's was calculated from 79 single nucleotide polymorphisms. RESULTS: 3343 cases were included (64.7% male). Off periods affected 35.0% (95% CI 33.0, 37.0) at 4-6 years and 59.0% (55.6, 62.3) at 8-10 years. Dyskinesia affected 18.5% (95% CI 16.9, 20.2) at 4-6 years and 42.1% (38.7, 45.5) at 8-10 years. Dystonia affected 13.4% (12.1, 14.9) at 4-6 years and 22.8% (20.1, 25.9) at 8-10 years. Off periods consistently caused greater functional impact than dyskinesia. Motor complications were more common among those with higher drug doses, younger age at diagnosis, female gender, and greater dopaminergic responsiveness (in challenge tests), with associations emerging 2-4 years post-diagnosis. Higher Parkinson's GRS was associated with early dyskinesia (0.026 ≤ P ≤ 0.050 from 2 to 6 years). CONCLUSIONS: Off periods are more common and cause greater functional impairment than dyskinesia. We confirm previously reported associations between motor complications with several demographic and medication factors. Greater dopaminergic responsiveness and a higher genetic risk score are two novel and significant independent risk factors for the development of motor complications.


Asunto(s)
Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/complicaciones , Masculino , Femenino , Persona de Mediana Edad , Anciano , Índice de Severidad de la Enfermedad , Discinesias/epidemiología , Discinesias/etiología , Discinesias/genética , Estudios Prospectivos , Distonía/epidemiología , Distonía/genética , Antiparkinsonianos/uso terapéutico , Antiparkinsonianos/efectos adversos , Estudios de Seguimiento
8.
Am J Case Rep ; 25: e941840, 2024 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-38433438

RESUMEN

BACKGROUND Hemiballismus is the most severe form of chorea and is a hyperkinetic disorder characterized by involuntary, high-amplitude movements of the ipsilateral arm and leg, due to lesions of the contralateral side of the central nervous system. Ischemic or hemorrhagic strokes and nonketotic hyperglycemia are predominant etiologies of hemiballismus. Case reports highlighting hemiballismus associated with temporal and parietal lobe infarcts have been published, although research of frontal lobe involvement is limited. CASE REPORT A 78-year-old woman presented to the Emergency Department with sudden-onset left-sided hemiballismus. On examination, she was alert, oriented to self and time, and able to follow commands. Her neurologic examination was notable for left-sided hemiballismus, described by the provider as periodic, uncontrolled, and involving a "flinging" motion of the left upper and lower extremities, sparing the face. She was treated with benzodiazepines in the Emergency Department and administered intravenous levetiracetam. Computed tomography of the head without contrast revealed an old left basal ganglia lacunar infarct. The patient was then admitted to the inpatient service, where magnetic resonance imaging of the brain revealed an acute punctate left superior frontal gyrus cortical infarct. Outpatient electroencephalogram revealed right anterior hemisphere dysfunction. CONCLUSIONS We describe a patient with left-sided sudden onset hemiballismus with an acute infarct of the ipsilateral superior frontal gyrus. This case highlights that brain lesions separate from the basal ganglia can induce hemiballismus, particularly within the frontal lobe, which warrants further research into precentral sulcus functioning and its role in modulating motor activity.


Asunto(s)
Discinesias , Femenino , Humanos , Anciano , Discinesias/etiología , Sistema Nervioso Central , Encéfalo , Administración Intravenosa , Infarto
9.
J Med Case Rep ; 18(1): 154, 2024 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-38468351

RESUMEN

BACKGROUND: Diabetic striatopathy, also known as hyperglycemic hemichorea-hemiballismus, is a rare movement disorder associated with nonketotic hyperglycemia in patients with poorly controlled diabetes mellitus. The pathophysiology is not fully elucidated but may involve hyperviscosity, ischemia, and alterations in basal ganglia neurotransmitters. CASE PRESENTATION: We present a case of a 64-year-old Asian female patient with longstanding poorly controlled type 2 diabetes mellitus who developed abrupt-onset right-sided hemichorea-hemiballismus. Laboratory results showed hyperglycemia without ketoacidosis. Neuroimaging revealed left putaminal hyperdensity on computed tomography and T1 hyperintensity on magnetic resonance imaging. With insulin therapy and tetrabenazine, her movements improved but persisted at 1-month follow-up. DISCUSSION: This case illustrates the typical features of diabetic striatopathy, including acute choreiform movements contralateral to neuroimaging abnormalities in the setting of nonketotic hyperglycemia. While neuroleptics may provide symptomatic relief, prompt glycemic control is critical given the risk of recurrence despite imaging normalization. CONCLUSION: Diabetic striatopathy should be recognized as a rare disorder that can occur with poorly controlled diabetes. Further study of its pathophysiological mechanisms is needed to better guide management. Maintaining tight glycemic control is essential to prevent recurrence of this debilitating movement disorder.


Asunto(s)
Enfermedades Autoinmunes , Corea , Diabetes Mellitus Tipo 2 , Discinesias , Hiperglucemia , Trastornos del Movimiento , Humanos , Femenino , Persona de Mediana Edad , Corea/tratamiento farmacológico , Corea/etiología , Diabetes Mellitus Tipo 2/complicaciones , Discinesias/etiología , Discinesias/complicaciones , Hiperglucemia/complicaciones , Hiperglucemia/tratamiento farmacológico , Trastornos del Movimiento/complicaciones , Imagen por Resonancia Magnética
11.
J Bodyw Mov Ther ; 37: 57-62, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38432842

RESUMEN

INTRODUCTION: Shoulder injuries in baseball players cause excessive shoulder load during pitching and scapular dyskinesis (SD). However, the characteristics of pitching kinetics in the shoulder joint with SD are unclear. This study aimed to investigate the effect of SD on pitching kinetics in the shoulder joint of baseball players. METHOD: Seventy-two college and independent league baseball players participated in the study. The pitching motion was measured using an 18-camera motion-capture system. SD was classified into four types (I-IV) using the scapular dyskinesis test (SDT). The pitching kinetics data were analyzed. RESULTS: The agreement of SD in this study was 56/72 (77.8%). SD were classified into 31 abnormal group (type I-Ⅲ) and 25 control group (type Ⅳ). Three participants with measurement failure during the pitching motion analysis were excluded from the analysis. The abnormal group showed a larger maximum value of the glenohumeral normalized anterior joint force than the control group. CONCLUSIONS: These results suggest that an increase in GH anterior force during pitching causes an excessive increase in external rotation of the GH with an insufficient posterior tilt of the scapula with SD. Therefore, baseball pitching with SD may involve shoulder injuries owing to excessive shoulder load during pitching.


Asunto(s)
Béisbol , Discinesias , Lesiones del Hombro , Articulación del Hombro , Humanos , Hombro , Escápula , Discinesias/etiología
12.
Arch Endocrinol Metab ; 68: e220413, 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38530964

RESUMEN

Nonketotic hyperglycemia may occur as a cause of chorea in patients with chronic decompensated diabetes. Because it is rare and consequently poorly studied, diagnosis and treatment can be delayed. Therefore, our objective was to summarize clinical and radiological features, as well as treatments performed, from previously reported cases to facilitate adequate management in clinical practice. We searched MEDLINE/PubMed, EMBASE, Cochrane, CINAHL, Web of Science, Scopus, and LILACS databases for studies published before April 23, 2021. We included case reports and case series of adults (aged ≥ 18 years) that described hyperglycemic chorea with measurement ofglycated hemoglobin (HbA1c) and cranial magnetic resonance imaging (MRI). Studies were excluded if participants were pregnant women, aged < 18 years, and had no description of chorea and/or physical examination. We found 121 studies that met the inclusion criteria, for a total of 214 cases. The majority of the included studies were published in Asia (67.3%). Most patients were women(65.3%) aged > 65 years (67.3%). Almost all patients had decompensated diabetes upon arrival at the emergency department (97.2%). The most common MRI finding was abnormalities of the basal ganglia (89.2%). There was no difference in patient recovery between treatment with insulin alone and in combination with other medications. Although rare, hyperglycemic chorea is a reversible cause of this syndrome; therefore, hyperglycemia should always be considered in these cases.


Asunto(s)
Corea , Discinesias , Hiperglucemia , Humanos , Corea/etiología , Corea/tratamiento farmacológico , Corea/diagnóstico por imagen , Hiperglucemia/complicaciones , Discinesias/etiología , Discinesias/tratamiento farmacológico , Discinesias/diagnóstico por imagen , Imagen por Resonancia Magnética , Femenino , Síndrome , Masculino , Anciano
13.
Neurol Sci ; 45(7): 3509-3511, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38548894

RESUMEN

BACKGROUND: Hemiballism (HB) and hemichorea (HC) are the most frequent secondary movement disorders, usually caused by cerebrovascular diseases. In only a minority of cases, these involuntary movements are not self-limited, and they may severely compromise patients' quality of life, so that symptomatic treatments are required. Typical and atypical neuroleptics as well as tetrabenazine are considered therapies of choice. However, anecdotal reports of antiseizures medications and botulinum neurotoxin injection effectiveness have been described. METHODS: We described a case of severely disabling acute-onset lesional HB/HC, where high dosage of first- and second-line therapies was contraindicated due to patient's comorbidities. RESULTS: After botulin neurotoxin (BoNT) injections in his left upper limb muscles (biceps brachii, triceps brachii, teres major, and deltoid), the patient experienced gradual reduction of hyperkinetic movements. The gradual discontinuation of topiramate (TPM) did not worsen the clinical picture. DISCUSSION: The reduction of hyperkinetic movements led to rhabdomyolysis resolution as well as cutaneous injuries healing with renal function improvement, so that the patient was able to be eligible for rehabilitation, which was prevented by HB/HC itself. The clinical improvement was consistent with BoNT pharmacokinetic. The administration of BoNT early after the onset of lesional HB/HC remarkably modified the clinical management and drove toward comorbidities resolution and rehabilitation. CONCLUSION: The present case highlights the effectiveness of unconventional therapeutic options in disabling acute onset lesional HB/HC when first-line therapies are contraindicated. Particularly, this report may encourage BoNT application in the early stage of movement disorder emergencies.


Asunto(s)
Discinesias , Humanos , Masculino , Discinesias/tratamiento farmacológico , Discinesias/etiología , Fármacos Neuromusculares/administración & dosificación , Fármacos Neuromusculares/uso terapéutico , Toxinas Botulínicas Tipo A/administración & dosificación , Toxinas Botulínicas Tipo A/uso terapéutico , Corea/tratamiento farmacológico , Persona de Mediana Edad
14.
Palliat Support Care ; 22(3): 623-625, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38314508

RESUMEN

Due to their immunocompromised state, recipients of hematopoietic stem cell transplants (HSCTs) are at a higher risk of opportunistic infections, such as that of toxoplasmosis. Toxoplasmosis is a rare but mortal infection that can cause severe neurological symptoms, including confusion. In immunosuppressed individuals, such as those with acquired immunodeficiency syndrome (AIDS), toxoplasmosis can cause movement disorders, including hemichorea-hemiballismus. We present the case of a 54-year-old Caucasian male with a history of hypertension and JAK-2-negative primary myelofibrosis who underwent an allogeneic peripheral blood stem cell transplant from a related donor. After the development of acute changes in mental status, left-sided weakness, and left-sided hemichorea-hemiballismus post-transplant, the patient was readmitted to the hospital. Subsequent testing included an magnetic resonance imaging (MRI) of the brain, which revealed multiple ring-enhancing lesions around the thalami and basal ganglia, as well as a cerebrospinal fluid tap that tested positive for toxoplasmosis. The patient was initially treated with intravenous clindamycin and oral pyrimethamine with leucovorin. The completion of treatment improved the patient's mental status but did not improve his hemichorea-hemiballismus. This case illustrates an uncommon complication associated with central nervous system (CNS) toxoplasmosis in stem cell transplant recipients. Due to its rarity, cerebral toxoplasmosis in immunocompromised patients often remains undetected, particularly in HSCT patients who are immunosuppressed to improve engraftment. Neurological and neuropsychiatric symptoms due to toxoplasmosis may be misidentified as psychiatric morbidities, delaying appropriate treatment. Polymerase chain reaction (PCR) assays offer methods that are sensitive and specific to detecting toxoplasmosis and provide opportunities for early intervention.


Asunto(s)
Discinesias , Trasplante de Células Madre Hematopoyéticas , Toxoplasmosis Cerebral , Humanos , Masculino , Toxoplasmosis Cerebral/complicaciones , Toxoplasmosis Cerebral/diagnóstico , Persona de Mediana Edad , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Trasplante de Células Madre Hematopoyéticas/métodos , Discinesias/etiología , Corea/etiología , Huésped Inmunocomprometido , Imagen por Resonancia Magnética/métodos
15.
Brain ; 147(6): 2038-2052, 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38195196

RESUMEN

In Parkinson's disease, imbalances between 'antikinetic' and 'prokinetic' patterns of neuronal oscillatory activity are related to motor dysfunction. Invasive brain recordings from the motor network have suggested that medical or surgical therapy can promote a prokinetic state by inducing narrowband gamma rhythms (65-90 Hz). Excessive narrowband gamma in the motor cortex promotes dyskinesia in rodent models, but the relationship between narrowband gamma and dyskinesia in humans has not been well established. To assess this relationship, we used a sensing-enabled deep brain stimulator system, attached to both motor cortex and basal ganglia (subthalamic or pallidal) leads, paired with wearable devices that continuously tracked motor signs in the contralateral upper limbs. We recorded 984 h of multisite field potentials in 30 hemispheres of 16 subjects with Parkinson's disease (2/16 female, mean age 57 ± 12 years) while at home on usual antiparkinsonian medications. Recordings were done 2-4 weeks after implantation, prior to starting therapeutic stimulation. Narrowband gamma was detected in the precentral gyrus, subthalamic nucleus or both structures on at least one side of 92% of subjects with a clinical history of dyskinesia. Narrowband gamma was not detected in the globus pallidus. Narrowband gamma spectral power in both structures co-fluctuated similarly with contralateral wearable dyskinesia scores (mean correlation coefficient of ρ = 0.48 with a range of 0.12-0.82 for cortex, ρ = 0.53 with a range of 0.5-0.77 for subthalamic nucleus). Stratification analysis showed the correlations were not driven by outlier values, and narrowband gamma could distinguish 'on' periods with dyskinesia from 'on' periods without dyskinesia. Time lag comparisons confirmed that gamma oscillations herald dyskinesia onset without a time lag in either structure when using 2-min epochs. A linear model incorporating the three oscillatory bands (beta, theta/alpha and narrowband gamma) increased the predictive power of dyskinesia for several subject hemispheres. We further identified spectrally distinct oscillations in the low gamma range (40-60 Hz) in three subjects, but the relationship of low gamma oscillations to dyskinesia was variable. Our findings support the hypothesis that excessive oscillatory activity at 65-90 Hz in the motor network tracks with dyskinesia similarly across both structures, without a detectable time lag. This rhythm may serve as a promising control signal for closed-loop deep brain stimulation using either cortical or subthalamic detection.


Asunto(s)
Estimulación Encefálica Profunda , Ritmo Gamma , Corteza Motora , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/fisiopatología , Femenino , Masculino , Persona de Mediana Edad , Ritmo Gamma/fisiología , Estimulación Encefálica Profunda/métodos , Corteza Motora/fisiopatología , Anciano , Adulto , Discinesias/fisiopatología , Discinesias/etiología , Núcleo Subtalámico/fisiopatología , Red Nerviosa/fisiopatología
16.
Neurol Neurochir Pol ; 58(2): 161-166, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38230756

RESUMEN

INTRODUCTION: ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia. State of the-art. ADCY5 mutations result in clinically heterogeneous manifestations which comprise a range of core and less to highly variable symptoms. Due to the heterogeneous nature and difficulty in diagnosis of the disorder, available treatments are highly limited. CLINICAL IMPLICATIONS: ADCY5-related dyskinesia was reported in 52 individuals in the literature over a five-year period (January 2017 to January 2022). We have listed all the symptoms and their frequency. The most common symptom reported in these patients was dystonia. Over 50% of patients developed dyskinesia and chorea. We report two cases of familial occurrence of symptomatic ADCY5-related dyskinesia. A 45-year-old patient presented with involuntary movements which had been occurring since childhood. The proband's neurological examination revealed dysarthria, involuntary myoclonic twitches, and choreic movements. The patient's 9-year-old son had developed involuntary movements, mainly chorea and dystonia. FUTURE DIRECTIONS: This paper aims to summarise the recent literature on ADCY5-related neurological disorders and to present a new case of a Polish family with ADCY5 mutation. Genetic diagnostics are important in the context of possible future targeted treatments.


Asunto(s)
Adenilil Ciclasas , Humanos , Adenilil Ciclasas/genética , Masculino , Persona de Mediana Edad , Niño , Corea/genética , Discinesias/genética , Discinesias/etiología , Mutación , Femenino
17.
Instr Course Lect ; 73: 609-624, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38090928

RESUMEN

It is important to discuss the importance of synchronous balance between periscapular muscles for scapulothoracic motion and resultant scapulohumeral rhythm. Abnormalities in this balance can lead to scapular dyskinesia and winging, affecting shoulder motion and leading to impingement. Strategies exist to diagnose and differentiate between pathologies such as muscle paralysis (eg, trapezius or serratus anterior) or overactivity (eg, pectoralis minor). The physician should be aware of the role of diagnostic imaging, as well as the unique considerations for patients with Ehlers-Danlos syndrome. Overall, a comprehensive physical examination to accurately diagnose and treat scapular pathologies is particularly important.


Asunto(s)
Discinesias , Escápula , Humanos , Electromiografía , Escápula/fisiología , Hombro/fisiología , Músculo Esquelético/fisiología , Discinesias/diagnóstico , Discinesias/etiología
18.
Sci Rep ; 13(1): 22426, 2023 12 16.
Artículo en Inglés | MEDLINE | ID: mdl-38104147

RESUMEN

Dyskinesias are non preventable abnormal involuntary movements that represent the main challenge of the long term treatment of Parkinson's disease (PD) with the gold standard dopamine precursor levodopa. Applying machine learning techniques on the data extracted from the Parkinson's Progression Marker Initiative (PPMI, Michael J. Fox Foundation), this study was aimed to identify PD patients who are at high risk of developing dyskinesias. Data regarding clinical, behavioral and neurological features from 697 PD patients were included in our study. Our results show that the Random Forest was the classifier with the best and most consistent performance, reaching an area under the receiver operating characteristic (ROC) curve of up to 91.8% with only seven features. Information regarding the severity of the symptoms, the semantic verbal fluency, and the levodopa treatment were the most important for the prediction, and were further used to create a Decision Tree, whose rules may guide the pharmacological management of PD symptoms. Our results contribute to the identification of PD patients who are prone to develop dyskinesia, and may be considered in future clinical trials aiming at developing new therapeutic approaches for PD.


Asunto(s)
Discinesias , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/diagnóstico , Levodopa/efectos adversos , Discinesias/etiología , Discinesias/diagnóstico , Algoritmos , Dopamina/uso terapéutico
19.
Artículo en Inglés | MEDLINE | ID: mdl-38162981

RESUMEN

This video abstract delves into the expanded definition of diabetic striatopathy, linked initially to hyperglycemia-induced choreoballism and striatal hyperintensity on magnetic resonance imaging, but now recognized to encompass a broader range of acute onset, non-choreoballistic movement disorders in diabetes mellitus, including tremors, hemifacial spasm, parkinsonism, different types of myoclonus, dystonia, restless leg syndrome, ataxia, and dyskinesias. We report the case of a 45-year-old female patient with type-2 diabetes mellitus who developed propriospinal myoclonus, characterized by painless, involuntary jerky movements of the bilateral lower limbs in a supine position after admission for suspected rhino-orbital mucormycosis. The abnormal movements resolved entirely following the control of her blood glucose levels, suggesting a direct correlation between hyperglycemia and the clinical picture. This case highlights the importance of considering a wide range of differential diagnoses for abnormal lower limb movements in diabetic patients, emphasizing the need for accurate identification of movement semiology, routine bedside capillary blood glucose checks, and prompt hyperglycemia management to resolve such movement disorders effectively.


Asunto(s)
Diabetes Mellitus , Discinesias , Hiperglucemia , Trastornos del Movimiento , Mioclonía , Femenino , Humanos , Persona de Mediana Edad , Mioclonía/diagnóstico por imagen , Mioclonía/etiología , Glucemia , Discinesias/diagnóstico por imagen , Discinesias/etiología , Hiperglucemia/complicaciones
20.
JNMA J Nepal Med Assoc ; 61(266): 831-833, 2023 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-38289776

RESUMEN

Belly dancer's dyskinesia or syndrome is a rare condition characterized by involuntary, undulating, infrequent diaphragm movements. The etiologies for this disorder include nervous system disorders (peripheral or central), drug-induced, psychological, or idiopathic. This article describes a 10-year-old boy with an underlying psychological stressor who suddenly experienced involuntary abdominal wall movements after salbutamol nebulization. After a detailed history, physical examination, and abdominal ultrasound that revealed rapid rhythmic diaphragm movements, the child was diagnosed with salbutamol-induced belly dancer's dyskinesia with an underlying psychological problem. These movements subsided with medical and psychological therapy for two weeks. Belly dancer's dyskinesia is a complex disorder that is difficult to diagnose but can be managed with medical treatment and psychological counseling alone in a few patients. In contrast, in other cases, surgical intervention may be required. Keywords: case reports; dyskinesias; salbutamol.


Asunto(s)
Pared Abdominal , Discinesias , Masculino , Niño , Humanos , Discinesias/diagnóstico , Discinesias/etiología , Síndrome , Albuterol/uso terapéutico
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