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Tremor and Other Hyperkinetic Movements... 2023Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this... (Review)
Review
BACKGROUND
Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.
METHODS
A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.
RESULTS
The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.
DISCUSSION
This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.
Topics: Humans; Chorea; Athetosis; Metabolism, Inborn Errors; Movement Disorders; Dyskinesias
PubMed: 37810989
DOI: 10.5334/tohm.801 -
Neurology. Clinical Practice Dec 2023The objective of this study was to explore the clinical spectrum of movement disorders and associated neurologic findings in hypomagnesemia and challenges in diagnosis... (Review)
Review
PURPOSE OF REVIEW
The objective of this study was to explore the clinical spectrum of movement disorders and associated neurologic findings in hypomagnesemia and challenges in diagnosis and treatment.
RECENT FINDINGS
Sixty patients were identified in the literature for analysis. Movement disorders observed were postural tremor (23.3%, n = 14), resting tremor (8.3%, n = 5), intention tremor (10%, n = 6), ataxia involving the trunk (48.3%, n = 29) or limbs (25%, n = 15) and dysarthria (21.7%, n = 13), athetosis (8.3%, n = 5), myoclonus (6.7%, n = 4), and chorea (1.8%, n = 1). Symptoms may be accompanied by downbeat nystagmus, tetany, drowsiness, vertigo, and proximal muscle weakness. Residual deficits were noted in 16 (26.67%) patients. Serum magnesium was 1.3 mg/dL or lower in 53 patients (88.3%). Imaging findings include bilateral cerebellar (20%, n = 11) and vermis hyperintensities (9.09%, n = 5) and normal imaging. Proton pump inhibitors are the commonest etiology.
SUMMARY
The movement disorders linked with hypomagnesemia can be associated with varied neurologic symptoms. A high degree of suspicion will enable early diagnosis to prevent residual deficits.
PubMed: 37795503
DOI: 10.1212/CPJ.0000000000200202 -
Neuroscience Research Jul 2020In this communication, I first summarize the mechanisms underlying human voluntary movements and define the involuntary movements (medical term). (Review)
Review
UNLABELLED
In this communication, I first summarize the mechanisms underlying human voluntary movements and define the involuntary movements (medical term).
CLASSIFICATION OF HUMAN MOVEMENTS
Human movements are classified into two main kinds: intentional movements and non-intentional movements in which the involuntary movements are included. Non-intentional movements have many kinds of movement: normal non-intentional movements (associate movements, mirror movements or juggling knees etc.), several reflexes (spinal tendon, spinal flexion, spino-bulbo-spinal, cortical reflexes and startle response) and pathological non-intentional movements which should be treated (so called "involuntary movements" in clinical practice, medical term of involuntary movement).
VOLUNTARY MOVEMENTS
The final motor commands for movements are mediated by several descending motor pathways. These final pathways are modified, regulated by two main loops (basal ganglia loop and cerebellar loop).
INVOLUNTARY MOVEMENTS (MEDICAL TERM)
The involuntary movements are produced by a non-intentional, pathological activation anywhere within the final common pathways or the above two loops. I would like to personally divide those into four major groups.
TREMOR
Some oscillation mechanisms may produce tremor: one site oscillation or loop oscillation.
MYOCLONUS
Sudden, brief, shock-like involuntary movements arising from anywhere from the cortex to the muscle.
CHOREA/BALLISM
Suddenly appearing, irregular, phasic movements which are usually mimicked by normal subjects.
DYSTONIA/ATHETOSIS
Sustained, long duration muscle contraction sometimes associated with torsion components.
Topics: Basal Ganglia; Dyskinesias; Dystonia; Humans; Movement; Movement Disorders
PubMed: 31634500
DOI: 10.1016/j.neures.2019.10.001 -
Pediatrics International : Official... Aug 2018In 1992, Kobe University proposed treatment criteria for hyperbilirubinemia in newborns using total serum bilirubin and serum unbound bilirubin reference values. In the... (Review)
Review
In 1992, Kobe University proposed treatment criteria for hyperbilirubinemia in newborns using total serum bilirubin and serum unbound bilirubin reference values. In the last decade, chronic bilirubin encephalopathy has been found to develop in preterm infants in Japan because it can now be clinically diagnosed based on an abnormal signal of the globus pallidus on T2-weighted magnetic resonance imaging and abnormal auditory brainstem response with or without apparent hearing loss, along with physical findings of kinetic disorders with athetosis. We therefore revised the Kobe University treatment criteria for preterm hyperbilirubinemic infants in 2017. The three revised points are as follows: (i) newborns are classified under gestational age at birth or corrected gestational age, not birthweight; (ii) three treatment options were created: standard phototherapy, intensive phototherapy, and albumin therapy and/or exchange blood transfusion; and (iii) initiation of standard phototherapy, intensive phototherapy, and albumin therapy and/or exchange blood transfusion is decided based on the total serum bilirubin and serum unbound bilirubin reference values for gestational weeks at birth at <7 days of age, and on the reference values for corrected gestational age at ≥7 days of age. Studies are needed to establish whether chronic bilirubin encephalopathy can be prevented using the 2017 revised Kobe University treatment criteria for preterm infants in Japan.
Topics: Albumins; Combined Modality Therapy; Exchange Transfusion, Whole Blood; Humans; Hyperbilirubinemia, Neonatal; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Japan; Kernicterus; Phototherapy; Practice Guidelines as Topic
PubMed: 29906300
DOI: 10.1111/ped.13635 -
European Journal of Paediatric... Mar 2018Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture. Various... (Review)
Review
Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture. Various aetiologies can cause the CP clinical spectrum, but all have a disruption of motor control in common. CP can be divided into four major types based on the motor disability: predominant spastic, dyskinetic, ataxic and mixed form. Dyskinetic CP (DCP) is the most common cause of acquired dystonia in children. The treatment of DCP is challenging because most individuals have mixed degrees of chorea, athetosis and dystonia. Pharmacological treatment is often unsatisfactory. Functional neurosurgery, in particular deep brain stimulation targeting the basal ganglia or the cerebellum, is emerging as a promising therapeutic approach in selected patients with DCP. We evaluated herein the effects of DBS on patients with DCP in a review of published patient data in the largest available studies.
Topics: Cerebral Palsy; Child; Deep Brain Stimulation; Dystonia; Female; Humans; Male
PubMed: 29396170
DOI: 10.1016/j.ejpn.2017.12.002 -
Clinical Neurology and Neurosurgery Sep 2021William Alexander Hammond was an American military physician and a main driving force for the development of modern-day clinical Neurology in America. Hammond served as... (Review)
Review
William Alexander Hammond was an American military physician and a main driving force for the development of modern-day clinical Neurology in America. Hammond served as the 11th Surgeon General of the United States Army, acting during the Civil War. Throughout his time as Surgeon General, with influence from Florence Nightingale, Hammond enforced strict hygienic measures and called for the construction of pavilion style hospitals in order to decrease non-wound mortalities. He implemented further reformation of the American Medical Service that would improve efficiency and decrease general mortality for years to come. After his dismissal from the military service, Hammond continued to make meaningful achievements, spearheading the specialization of Neurology. He established the first private practice limited to diseases of the nervous system, published the first American Neurology textbook, coined the term "athetosis", and was the impetus for the formation of the American Neurological Association.
Topics: History, 19th Century; Humans; Military Medicine; Neurology; United States
PubMed: 34455404
DOI: 10.1016/j.clineuro.2021.106867 -
Adapted Physical Activity Quarterly :... Jan 2022Research has recently examined the role of impairment onset on athlete development in Paralympic sport; however, less is known on how impairment type can impact athlete...
Research has recently examined the role of impairment onset on athlete development in Paralympic sport; however, less is known on how impairment type can impact athlete sporting pathways. In this study, 187 Australian and Canadian Paralympic sport athletes completed a survey. Participants were divided into the following four groups: impaired muscle power (n = 79); ataxia, athetosis, and hypertonia (n = 44); limb deficiencies (n = 42); and other physical impairments (n = 22). Mechanisms of initiation into Paralympic sport varied between groups with some drawn to sport through friends and/or family (i.e., limb deficiencies and other physical impairments groups) while others through talent search programs (i.e., ataxia, athetosis, and hypertonia group) or health care professionals/rehabilitation centers (i.e., impaired muscle power group). Results revealed no significant differences between groups in the chronological age or absolute years for achieving milestones. However, considering the high variability within the sample, more research is necessary to better understand how athletes with different physical impairments navigate through their sporting careers.
Topics: Athletes; Australia; Canada; Disabled Persons; Humans; Sports
PubMed: 34728588
DOI: 10.1123/apaq.2021-0107 -
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 -
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 -
Neuropsychology Review Jun 2017Distinct forms of acquired neurocognitive impairment are often described by "a" prefixed terms that derive from ancient Greek (and in one case Latin). Two modern English... (Review)
Review
Distinct forms of acquired neurocognitive impairment are often described by "a" prefixed terms that derive from ancient Greek (and in one case Latin). Two modern English language neurological and neuropsychological reference books were searched to identify 17 such terms in contemporary usage: amnesia, akinesia, ataxia, aphasia, agraphia, anosmia, apraxia, athetosis, ageusia, achromatopsia, agnosia, alexia, amusia, anomia, anarthria, anosognosia, and acalculia. These were traced to their initial association with acquired neurocognitive impairment in German, English, and French language medical publications from the late 18th, 19th, and early 20th centuries (1770 through 1920). Some of these terms (e.g., agnosia) were used in ancient Greek, although not associated with neurocognitive impairment. The remainder constitute novel semantically plausible (e.g., anosmia) and unclear (e.g., alexia) formulations. In the localizationist thinking of the time, neurocognition was conceived as being organized within specialized "centers" in specific locations connected by pathways within the brain.
Topics: Cognition Disorders; History, 18th Century; History, 19th Century; History, 20th Century; Humans; Nervous System Diseases; Terminology as Topic
PubMed: 28484905
DOI: 10.1007/s11065-017-9346-4