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Journal of Neurology, Neurosurgery, and... Aug 1979Abnormal head movements have been studied in a variety of diseases using objective recording techniques and the data analysed with respect to the frequency content of...
Abnormal head movements have been studied in a variety of diseases using objective recording techniques and the data analysed with respect to the frequency content of the movement. Flopping, nodding, tic, chorea, myoclonic jerks, and most head tremors involve frequencies of approximately 2 and 4 Hz which correspond to the natural fundamental and second harmonic resonances of the head as determined by the mechanical properties of the head/neck system. These findings provide a basis for classification of abnormal head movements as well as an explanation of the characteristics of those arising from hypotonia of the neck muscles. The similarities between tremor frequencies and natural resonances suggest that in the case of the head, tremor arises from disorders of neural mechanisms normally responsible for the fine control of voluntary head movement and for stabilisation of the head during disturbance of posture. Head movements in cases of congenital nystagmus were found to be of two types. Some were of bizarre waveform, in no way assisted vision, and were taken to be of primarily pathological origin and classified as tremors. Others were learned adaptive responses which assisted vision either by interrupting the nystagmus, as in the case of spasmus nutans, or by compensating for the nystagmus with an inverse waveform and were called nodding. A prerequisite for true compensatory nodding is modified vestibulo-ocular reflex.
Topics: Adult; Athetosis; Child; Chorea; Eye Movements; Fixation, Ocular; Head; Humans; Movement Disorders; Myoclonus; Nystagmus, Pathologic; Posture; Tic Disorders; Tremor
PubMed: 490176
DOI: 10.1136/jnnp.42.8.705 -
Frontiers in Veterinary Science 2015Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements,... (Review)
Review
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.
PubMed: 26664992
DOI: 10.3389/fvets.2015.00065 -
International Journal of Environmental... Apr 2021This study aimed (1) to determine the appropriateness of using decision trees as a classification tool for determining the allocation of sport classes of... (Observational Study)
Observational Study
This study aimed (1) to determine the appropriateness of using decision trees as a classification tool for determining the allocation of sport classes of para-footballers with "moderate vs. mild" cerebral palsy (CP) profiles of spastic diplegia/hemiplegia and ataxia/athetosis based on observational outcomes by international classifiers, and (2) to identify what key observational features were relevant to discriminating among different impairment levels. A sample of 16 experienced international classifiers from five world regions participated in this study, observing activity limitation of a final sample of 21 international CP footballers when performing 16 gross-motor and sports-specific tests for balance ( = 3), coordination ( = 5), running, accelerations and decelerations ( = 3), jumping ( = 4), and change of direction ability ( = 1). For the overall sample (336 observations), the model included eight decision nodes and 24 branches with 17 leaves, including side-step, side-stepping, and triple hop as the tests with the best sensitivity (precision = 67.0%). For those with spastic diplegia (64 observations: Two nodes, six branches with five leaves), the range of motion in the side-step test and the balance in the tandem walk tests correctly classified 89.1% of the observations. In those with athetosis and ataxia (96 observations), the model included five nodes, 15 branches, and 11 leaves (176 observations, precision = 86.5%). For those with spastic hemiplegia, a model containing two nodes, six branches, and five leaves had 90.9% accuracy, including observational features of balance in the side-step test and symmetry in the side-stepping test. The observational tool used in this study, based on the impact of specific impairment measurements of hypertonia, athetosis, and ataxia, can be used to determine which assessments are more appropriate for discriminating between functional profiles in para-footballers with CP.
Topics: Cerebral Palsy; Decision Trees; Hemiplegia; Humans; Running; Soccer
PubMed: 33921841
DOI: 10.3390/ijerph18084320 -
The Hospital Nov 1907
PubMed: 29841611
DOI: No ID Found -
Developmental Medicine and Child... Mar 2012
Topics: Athetosis; Chorea; Disability Evaluation; Dystonia; Female; Humans; Male
PubMed: 22428171
DOI: 10.1111/j.1469-8749.2011.04208.x -
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Frontiers in Neurology 2020Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and... (Review)
Review
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in many cases difficult, because the same movement disorder can be caused by several diseases. Through a literature review, two hundred and thirty one inborn errors of metabolism presenting with movement disorders have been identified. Fifty-one percent of these diseases exhibits two or more movement disorders, of which ataxia and dystonia are the most frequent. Taking into account the wide range of these disorders, a methodical evaluation system needs to be stablished. This work proposes a six-step diagnostic algorithm for the identification of inborn errors of metabolism presenting with movement disorders comprising red flags, characterization of the movement disorders phenotype (type of movement disorder, age and nature of onset, distribution and temporal pattern) and other neurological and non-neurological signs, minimal biochemical investigation to diagnose treatable diseases, radiological patterns, genetic testing and ultimately, symptomatic, and disease-specific treatment. As a strong action, it is emphasized not to miss any treatable inborn error of metabolism through the algorithm.
PubMed: 33281718
DOI: 10.3389/fneur.2020.582160 -
Child Neurology Open 2022Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency,...
Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series of manifestations are caused by abnormal purine metabolism. The typical clinical manifestations are hyperuricemia, growth retardation, mental retardation, short stature, dance-like athetosis, aggressive behavior, and compulsive self-harm. We identified a point mutation c.151C > T (p. Arg51*) in a pedigree. We analyzed the clinical characteristics of children in a family, and obtained the blood of their parents and siblings for second-generation sequencing. At the same time, we also analyzed and compared the expression of HPRT1 gene and predicted the three-dimensional structure of the protein. And we analyzed the clinical manifestations caused by the defect of the HPRT1 gene. The mutation led to the termination of transcription at the 51st arginine, resulting in the production of truncated protein, and the relative expression of HPRT1 gene in patients was significantly lower than other family members and 10 normal individuals. This mutation leads to the early termination of protein translation and the formation of a truncated HPRT protein, which affects the function of the protein and generates corresponding clinical manifestations.
PubMed: 35875183
DOI: 10.1177/2329048X221108821 -
Journal of Neuroengineering and... Mar 2020In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation...
BACKGROUND
In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim to classify these instrumented measurements using the categories of the international classification of functioning, disability and health for children and youth (ICF-CY) and provide an overview of the outcome parameters.
METHODS
A systematic literature search was performed in November 2019. We electronically searched Pubmed, Embase and Scopus databases. Search blocks included (a) cerebral palsy, (b) athetosis, dystonia and/or dyskinesia, (c) age 2-24 years and (d) instrumented measurements (using keywords such as biomechanics, sensors, smartphone, and robot).
RESULTS
Our search yielded 4537 articles. After inspection of titles and abstracts, a full text of 245 of those articles were included and assessed for further eligibility. A total of 49 articles met our inclusion criteria. A broad spectrum of instruments and technologies are used to assess motor function in dyskinetic cerebral palsy, with the majority using 3D motion capture and surface electromyography. Only for a small number of instruments methodological quality was assessed, with only one study showing an adequate assessment of test-retest reliability. The majority of studies was at ICF-CY function and structure level and assessed control of voluntary movement (29 of 49) mainly in the upper extremity, followed by assessment of involuntary movements (15 of 49), muscle tone/motor reflex (6 of 49), gait pattern (5 of 49) and muscle power (2 of 49). At ICF-CY level of activities and participation hand and arm use (9 of 49), fine hand use (5 of 49), lifting and carrying objects (3 of 49), maintaining a body position (2 of 49), walking (1 of 49) and moving around using equipment (1 of 49) was assessed. Only a few methods are potentially suitable outside the clinical environment (e.g. inertial sensors, accelerometers).
CONCLUSION
Although the current review shows the potential of several instrumented methods to be used as objective outcome measures in dyskinetic cerebral palsy, their methodological quality is still unknown. Future development should focus on evaluating clinimetrics, including validating against clinical meaningfulness. New technological developments should aim for measurements that can be applied outside the laboratory.
Topics: Adolescent; Cerebral Palsy; Child; Disability Evaluation; Disabled Persons; Humans; Motor Disorders; Young Adult
PubMed: 32138731
DOI: 10.1186/s12984-020-00658-6 -
Proceedings of the Royal Society of... May 1938
PubMed: 19991505
DOI: No ID Found -
Neuropediatrics Oct 2021Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic...
Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic and genetic heterogeneity. 3-Hydroxy-isobutyryl-CoA hydrolase () deficiency is a neurodegenerative disease characterized in most patients by a continuous decline in psychomotor abilities or a secondary regression triggered by febrile infections and metabolic crises.We describe two PD patients from two pedigrees, both carrying a homozygous c.913A > G, p.Thr305Ala mutation in the gene, associated with an unusual clinical presentation. The first patient presented in the second year of life with right paroxysmal hemidystonia lasting for 30 minutes, without any loss of consciousness and without any triggering factor. The second patient has presented since the age of 3 recurrent exercise-induced PD episodes which have been described as abnormal equinovarus, contractures of the lower limbs, lasting for 1 to 4 hours, associated with choreic movements of the hands. Their neurological examination and metabolic screening were normal, while brain magnetic resonance imaging showed abnormal signal of the pallidi.We suggest that deficiency, through the accumulation of metabolic intermediates of the valine catabolic pathway, leads to a secondary defect in respiratory chain activity and pyruvate dehydrogenase () activity and to a broad phenotypic spectrum ranging from Leigh syndrome to milder phenotypes. The two patients presented herein expand the spectrum of the disease to include unusual paroxysmal phenotypes and deficiency should be considered in the diagnostic strategy of PD to enable adequate preventive treatment.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Chorea; Humans; Neurodegenerative Diseases; Thiolester Hydrolases
PubMed: 33506479
DOI: 10.1055/s-0040-1722678