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Journal of Clinical Anesthesia Feb 2017Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically manifesting after a latent...
Movement disorders following heart surgery are very unusual. Post-pump chorea is mainly a pediatric complication of heart surgery, typically manifesting after a latent period of normality and is usually related with long extracorporeal circulation time and deep hypothermia. We report a 73-year-old woman, without risk factors predisposing to paroxysmal movement disorders, presenting acute choreoathetoid movements 5 days after aortic valvular replacement with normal extracorporeal circulation time and perioperative normothermia.
Topics: Aged; Aortic Valve Stenosis; Athetosis; Cardiopulmonary Bypass; Chorea; Female; Heart Valve Prosthesis Implantation; Humans; Syndrome
PubMed: 28183575
DOI: 10.1016/j.jclinane.2016.08.043 -
Journal of Sports Sciences Aug 2021The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate...
Improving the objectivity of the current World Para Swimming motor coordination test for swimmers with hypertonia, ataxia and athetosis using measures of movement smoothness, rhythm and accuracy.
The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate their limbs is scored by subjective clinical judgment. The lack of objective measurement renders the current test unsuitable for evidence-based classification. This study evaluated a revised version of the Para swimming assessment for motor coordination, incorporating practical, objective measures of movement smoothness, rhythm error and accuracy. Nineteen Para athletes with hypertonia and 19 non-disabled participants performed 30 s trials of bilateral alternating shoulder flexion-extension at 30 bpm and 120 bpm. Accelerometry was used to quantify movement smoothness; rhythm error and accuracy were obtained from video. Para athletes presented significantly less smooth movement and higher rhythm error than the non-disabled participants (p < 0.05). Random forest algorithm successfully classified 89% of participants with hypertonia during out-of-bag predictions. The most important predictors in classifying participants were movement smoothness at both movement speeds, and rhythm error at 120 bpm. Our results suggest objective measures of movement smoothness and rhythm error included in the current motor coordination test protocols can be used to infer impairment in Para swimmers with hypertonia. Further research is merited to establish the relationship of these measures with swimming performance.
Topics: Accelerometry; Adult; Algorithms; Ataxia; Athetosis; Athletic Performance; Biomechanical Phenomena; Cerebral Palsy; Female; Humans; Male; Movement; Muscle Hypertonia; Para-Athletes; Physical Functional Performance; Psychomotor Performance; Range of Motion, Articular; Shoulder; Sports for Persons with Disabilities; Swimming; Video Recording; Young Adult
PubMed: 34092196
DOI: 10.1080/02640414.2021.1935114 -
Journal of Stroke and Cerebrovascular... Oct 2021In general, involuntary movements after stroke are due to a disturbance in the unilateral cortico-basal ganglia loop and appear contralateral to stroke lesions. Crossed...
In general, involuntary movements after stroke are due to a disturbance in the unilateral cortico-basal ganglia loop and appear contralateral to stroke lesions. Crossed involuntary movements after unilateral stroke are very rare. We observed a case of crossed involuntary movements in the left upper limb and right lower limb after a right thalamic hemorrhage expanded to the right subthalamic nucleus. We considered a possible three-step theory as the basis of crossed choreoathetosis. This case informs our better understanding of the cortico-basal ganglia loop and involuntary movements after stroke.
Topics: Aged, 80 and over; Athetosis; Chorea; Hemorrhagic Stroke; Humans; Male; Movement; Thalamus
PubMed: 34418672
DOI: 10.1016/j.jstrokecerebrovasdis.2021.106049 -
Andes Pediatrica : Revista Chilena de... Dec 2021In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out...
INTRODUCTION
In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene.
OBJECTIVE
To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1.
CLINICAL CASE
Newborn patient with respiratory distress since birth, chILD syndrome, and hypothyroidism, in which brain-lung-thyroid syndrome was suspected. He also presented seizures, minor and ma jor abnormalities on physical examination. Microarray analysis revealed a 14.7 Mb deletion in the chromosome 14q12-q21.1, which includes the NKX2-1 gene.
CONCLUSION
The brain-lung-thyroid syndrome should be considered in newborns with respiratory distress syndrome and diffuse lung disease (chILD syndrome), especially if they present hypotonia, choreoathetosis, or hypothyroidism. Diagnosis confirmation requires genetic analysis, even more, when there are other abnormalities not explained by the suspected syndrome.
Topics: Abnormalities, Multiple; Athetosis; Child; Chorea; Congenital Hypothyroidism; Genetic Diseases, X-Linked; Humans; Ichthyosiform Erythroderma, Congenital; Infant, Newborn; Limb Deformities, Congenital; Lung Diseases, Interstitial; Male; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1
PubMed: 35506806
DOI: 10.32641/andespediatr.v92i6.3287 -
Neuropediatrics Feb 201514q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital... (Review)
Review
BACKGROUND
14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dystonia is observed early in life in many patients. The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 haploinsufficiency, as described in the literature.
PATIENTS AND METHODS
We provide a review of the cases reported in the literature, adding two new patients. We searched for a comprehensive set of clinical features, including age at onset and semiology of the movement disorder, occurrence and type of stereotypies, and neurological outcome.
RESULTS
A total of 51 cases were included in our study. Nonepileptic abnormal movements occurred in 33 cases, often variably combined and presenting during the first year of life.
CONCLUSION
The neurological phenotype of FOXG1 haploinsufficiency shows the features of a dyskinetic encephalopathy of infancy.
Topics: Brain Diseases; Child, Preschool; Dyskinesias; Female; Forkhead Transcription Factors; Haploinsufficiency; Humans; Male; Nerve Tissue Proteins
PubMed: 25565401
DOI: 10.1055/s-0034-1395345 -
Annals of Neurosciences May 2017The Marchiafava-Bignami disease, characterized by demyelination and necrosis of the corpus callosum, has typically been associated with chronic alcohol intake, and...
The Marchiafava-Bignami disease, characterized by demyelination and necrosis of the corpus callosum, has typically been associated with chronic alcohol intake, and clinically has various symptoms and signs. However, several cases have been reported without alcohol association, and these - according to several publications - have some common points, such as preference for female, related to malnutrition, and radiological involvement of the splenium of the corpus callosum. We report a case of a patient with the characteristics described above and whose clinical manifestation was Athetosis. The authors associate this manifestation with the somatotopic distribution of the corpus callosum, and contribute to the etiologic diagnosis of Athetosis as a manifestation of the Marchiafava-Bignami disease, which has not been reported in the medical literature according to our review of the database.
PubMed: 28588358
DOI: 10.1159/000464424 -
Scandinavian Journal of Medicine &... Mar 2020Classification is a hot topic in Paralympic sport, making the development of evidence-based and sport-specific classification systems mandatory. However, the development...
Classification is a hot topic in Paralympic sport, making the development of evidence-based and sport-specific classification systems mandatory. However, the development of measurements for exploring the relationships between the athletes' impairment and their activity limitation is a considerable scientific challenge in team Paralympic sport such as 7-side football (ie, CP Football). The aims of this study were 1) to describe the activity limitation and external match load (ML) differences among impairment profiles (FT) in international level footballers with cerebral palsy (CPFP) and 2) to analyze the relationship among the activity limitation and external ML variables. Forty-eight international male CPFP (23 ± 7 y; 174.7 ± 7.2 cm; 69.4 ± 9.2 kg; 22.7 ± 2.6 kg·m ) participated in this study and were divided according to their impairment profile (FT5/6, FT7, and FT8). Significant differences (P < .05) have been observed among FT profiles in the activity limitation tests (ie, static balance, coordination, vertical jump, horizontal jump, acceleration capacity, and change of direction ability). Additionally, significant differences have been observed among FT profiles in certain ML values (ie, Vel , High Acc and in Mod and High Dec), where generally, FT8 players reported the best performance values. On the other hand, especially in the FT5/6 and in the FT8 profiles, a large-to-very large significant relationship was observed between the CPFP activity limitation and the ML values. In general, the results of the present study show that players with a lower impairment have less activity limitation and better ML. This study concludes that the potential relationships between the impairments of hypertonia, ataxia, or athetosis and performance in this para-sport might be impairment-specific.
Topics: Adolescent; Adult; Athletes; Athletic Performance; Cerebral Palsy; Cross-Sectional Studies; Disabled Persons; Exercise Test; Humans; Male; Mobility Limitation; Soccer; Sports for Persons with Disabilities; Young Adult
PubMed: 31657483
DOI: 10.1111/sms.13583 -
Neurology. Genetics Oct 2017
PubMed: 28955728
DOI: 10.1212/NXG.0000000000000189 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Jul 2019To characterize fever-induced paroxysmal weakness and encephalopathy (FIPWE) caused by ATP1A3 gene pathogenic variant. Phenotypic and genotypic characteristics of 4...
To characterize fever-induced paroxysmal weakness and encephalopathy (FIPWE) caused by ATP1A3 gene pathogenic variant. Phenotypic and genotypic characteristics of 4 FIPWE patients (3 boys and 1 girl), who were ascertained from October 2016 to March 2018 in Beijing Children's Hospital due to ATP1A3 heterozygous variants, were retrospectively analyzed. The whole exsome sequencing was used for genetic testing. The onset ages of 4 patients were 2 years and 9 months, 2 years and 4 months, 8 months, 2 years and 5 months respectively. The episode ranged from 1 to 3 times, and at 3 months to 2 years and 10 months intervals. All 4 patients had symptoms of limb weakness and encephalopathy, accompanied with mild to severe ataxia or athetosis. The tendon reflex was absent in all patients, and the Babinski's sign was positive. Three patients had dysphagia and 3 patients had slurred speech. Three patients had abnormal eye movements, including strabismus and opsoclonus. None of the 4 patients exhibited visual impairment, auditory impairment or talipes cavus. The duration of acute phase ranged from 1 week to 3 months. In 3 relapsing patients, symptoms became progressively worse, with relapses occurring frequently and recovery being more difficult, and various sequelae were found after the last relapse. All patients carried heterozygous variant in ATP1A3 gene. The missense variants result in the substitution of an arginine residue at position 756. Three variants were identified, including C. 2267G > T (p. R756L) (1 case), C. 2266C > T (p. R756C) (2 cases), and C. 2267G > A (p. R756H) (1 case). Three were de novo and one inherited from his father, but the grandparents did not carry the variant. All variants were reported as pathogenic. FIPWE is one of new clinical phenotypes of ATP1A3 spectrum disease and most cases are sporadic. The missense variants result in the substitution of an arginine residue at position 756. This report provided insights into the phenotype-genotype association in patients with FIPWE caused by pathogenic variants of ATP1A3.
Topics: Brain Diseases; Child; Child, Preschool; Female; Fever; Genetic Testing; Genotype; Humans; Male; Muscle Weakness; Mutation; Phenotype; Retrospective Studies; Sodium-Potassium-Exchanging ATPase
PubMed: 31269555
DOI: 10.3760/cma.j.issn.0578-1310.2019.07.010 -
Journal of Functional Morphology and... Dec 2023Football for people with cerebral palsy is a para-sport involving ambulant athletes with impairments, such as hypertonia, ataxia, or athetosis. The objective of the...
Football for people with cerebral palsy is a para-sport involving ambulant athletes with impairments, such as hypertonia, ataxia, or athetosis. The objective of the present study was to describe the somatotype of a representative sample of international football players according to different functional profiles of cerebral palsy, including spastic diparesis, athetosis/ataxia, spastic hemiparesis, and minimum impairment criteria, and to compare it with non-disabled football players. A total of 144 international para-footballers and 39 non-disabled footballers participated in the study, and their somatotype was calculated using anthropometric measurements. A Kruskal-Wallis test was used to compare the groups to determine and assess the differences between the different functional profiles, and the analysis of anthropometric variables and body composition showed no differences. Regarding somatotype, a predominance of the mesomorphic component was observed in all subgroups, and differences in somatotype were also found between non-disabled footballers and para-footballers with spastic hemiparesis and minimum impairment criteria. This study suggests that there may be a degree of homogeneity in terms of somatotype among footballers with or without physical impairments, such as hypertonia, athetosis, or ataxia. Furthermore, it provides reference values of international-level para-football players for the different sport classes, which can help coaches and trainers monitor athletes' physical conditions.
PubMed: 38132721
DOI: 10.3390/jfmk8040166