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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 -
Tremor and Other Hyperkinetic Movements... 2022The significance of falls and their repercussions in Parkinson's disease has been extensively researched. However, despite potentially serious effects on health and... (Review)
Review
BACKGROUND
The significance of falls and their repercussions in Parkinson's disease has been extensively researched. However, despite potentially serious effects on health and quality of life and negative impact on the healthcare system, there is not a sufficient understanding of the role of falls in hyperkinetic movement disorders (HKMDs). This review aims to provide an overview of the prevalence of falls, injuries, and preventive measures in the most common HKMDs.
METHODS
Studies up to May 1, 2022 were searched in PubMed using Medical Subjects Headings of relatively prevalent HKMDs associated with the terms "accidental falls", "injuries", "fractures", and "accident prevention".
RESULTS
In our review of 37 studies out of 155, we found evidence that for several HKMDs, such as spinocerebellar ataxia, essential tremor, Huntington's disease, and dystonia, fall risk is increased. Falls were reported in up to 84% of spinocerebellar ataxia patients, 59% of essential tremor patients, and 79% of Huntington's patients, with 65% of the latter falling frequently. Injuries occurred in up to 73% in Huntington and 74% in ataxia patients. Most of the common diseases characterized by HKMDs were investigated for both fall causes and consequences, but prevention studies were limited to spinocerebellar ataxia and Huntington's disease.
DISCUSSION
The limited available data suggest that patients with several HKMDs can be considered to be at increased risk of falling and that the consequences can be serious. As a result, physicians should be advised to include fall exploration in their routine workup and provide advice for safer mobility. In general, more research into fall-related concerns in HKMDs is necessary.
HIGHLIGHTS
In contrast to Parkinson's disease, the prevalence of accidental falls, their repercussions, and preventive strategies are under-investigated in hyperkinetic movement disorders (HKMDs). Several HKMDs such as essential tremor, ataxia, and Huntington's disease have reported fall rates of up to 84% and fall-related injury rates of up to 74%. Therefore, routine examinations of HKMD patients should include a fall exploration and provide advice on safe mobility.
Topics: Humans; Accidental Falls; Essential Tremor; Parkinson Disease; Huntington Disease; Hyperkinesis; Quality of Life; Ataxia; Spinocerebellar Ataxias
PubMed: 36303814
DOI: 10.5334/tohm.709 -
Journal of Science and Medicine in Sport Dec 2020Para athletes with brain impairment are affected by hypertonia, ataxia and athetosis, which adversely affect starting, sprinting and submaximal running. The aim was to...
OBJECTIVES
Para athletes with brain impairment are affected by hypertonia, ataxia and athetosis, which adversely affect starting, sprinting and submaximal running. The aim was to identify and synthesise evidence from studies that have compared the biomechanics of runners with brain impairments (RBI) and non-disabled runners (NDR).
DESIGN
Systematic review.
METHODS
Five journal databases were systematically searched from inception to March 2020. Included studies compared the biomechanics of RBI (aged>14 years) and NDR performing either block-starts, sprinting, or submaximal running.
RESULTS
Eight studies were included, analysing a total of 100 RBI (78M:22F; 18-38 years) diagnosed with either cerebral palsy (n=44) or traumatic brain injury (n=56). Studies analysed block-starts (n=3), overground sprinting (n=3) and submaximal running (n=2), and submaximal treadmill running (n=1). Horizontal velocity during starts, sprinting and self-selected submaximal speeds were lower in RBI. During sprinting and submaximal running, compared with NDR, RBI had shorter stride length, step length, and flight time, increased ground-contact time, increased cadence, and reduced ankle and hip range of motion. In submaximal running, RBI had decreased ankle-power generation at toe-off.
CONCLUSIONS
There is limited research and small sample sizes in this area. However, preliminary evidence suggests that RBI had lower sprint speeds and biomechanical characteristics typical of submaximal running speeds in NDR, including increased ground-contact times and reduced stride length, step length, and flight times. Meaningful interpretation of biomechanical findings in RBI is impeded by impairment variability (type, severity and distribution), and methods which permit valid, reliable impairment stratification in larger samples are required.
Topics: Ankle; Biomechanical Phenomena; Brain Injuries, Traumatic; Cerebral Palsy; Gait; Hip; Humans; Knee; Range of Motion, Articular; Running; Sports for Persons with Disabilities
PubMed: 32507448
DOI: 10.1016/j.jsams.2020.05.006 -
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 -
The Cochrane Database of Systematic... May 2018Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder... (Review)
Review
BACKGROUND
Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. The involuntary contractions are often very painful and distressing and cause significant limitations to activity and participation.Oral medications are often the first line of medical treatment for dystonia. Trihexyphenidyl is one such medication that clinicians often use to treat dystonia in people with cerebral palsy.
OBJECTIVES
To assess the effects of trihexyphenidyl in people with dystonic cerebral palsy, according to the World Health Organization's (WHO) International Classification of Functioning, Disability and Health (ICF) domains of impairment, activity and participation. We also assessed the type and incidence of adverse effects in people taking the drug.
SEARCH METHODS
We searched CENTRAL, MEDLINE, Embase, eight other databases and two trials registers in May 2017, and we checked reference lists and citations to identify additional studies.
SELECTION CRITERIA
We included randomised controlled trials comparing oral trihexyphenidyl versus placebo for dystonia in cerebral palsy. We included studies in children and adults of any age with dystonic cerebral palsy, either in isolation or with the associated movement disorders of spasticity, ataxia, chorea, athetosis and/or hypotonia. We included studies regardless of whether or not the study authors specified the method used to diagnose dystonia in their study population. Primary outcomes were change in dystonia and adverse effects. Secondary outcomes were: activity, including mobility and upper limb function; participation in activities of daily living; pain; and quality of life.
DATA COLLECTION AND ANALYSIS
We used standard methodological procedures expected by Cochrane.
MAIN RESULTS
We identified one study, which was set in Australia, that met the inclusion criteria. This was a randomised, double-blind, placebo-controlled, cross-over trial in 16 children (10 boys and 6 girls) with predominant dystonic cerebral palsy and a mean age of 9 years (standard deviation 4.3 years, range 2 to 17 years). We considered the trial to be at low risk of selection, performance, detection, attrition, reporting and other sources of bias. We rated the GRADE quality of the evidence as low.We found no difference in mean follow-up scores for change in dystonia as measured by the Barry Albright Dystonia Scale (BADS), which assesses eight body regions for dystonia on a 5-point scale (0 = none to 4 = severe), resulting in a total score of 0 to 32. The BADS score was 2.67 points higher (95% confidence interval (CI) -2.55 to 7.90; low-quality evidence), that is, worse dystonia, in the treated group. Trihexyphenidyl may be associated with an increased risk of adverse effects (risk ratio 2.54, 95% CI 1.38 to 4.67; low-quality evidence).There was no difference in mean follow-up scores for upper limb function as measured by the Quality of Upper Extremity Skills Test, which has four domains that collectively assess 36 items (each scored 1 or 2) and produces a total score of 0 to 100. The score in the treated group was 4.62 points lower (95% CI -10.98 to 20.22; low-quality evidence), corresponding to worse function, than in the control group. We found low-quality evidence for improved participation (as represented by higher scores) in the treated group in activities of daily living, as measured by three tools: 18.86 points higher (95% CI 5.68 to 32.03) for the Goal Attainment Scale (up to five functional goals scored on 5-point scale (-2 = much less than expected to +2 = much more than expected)), 2.91 points higher (95% CI 1.01 to 4.82) for the satisfaction subscale of the Canadian Occupational Performance Measure (COPM; satisfaction with performance in up to five problem areas scored on a 10-point scale (1 = not satisfied at all to 10 = extremely satisfied)), and 2.24 points higher (95% CI 0.64 to 3.84) for performance subscale of the COPM (performance in up to five problem areas scored on a 10-point scale (1 = not able to do to; 10 = able to do extremely well)).The study did not report on pain or quality of life.
AUTHORS' CONCLUSIONS
At present, there is insufficient evidence regarding the effectiveness of trihexyphenidyl for people with cerebral palsy for the outcomes of: change in dystonia, adverse effects, increased upper limb function and improved participation in activities of daily living. The study did not measure pain or quality of life. There is a need for larger randomised, controlled, multicentre trials that also examine the effect on pain and quality of life in order to determine the effectiveness of trihexyphenidyl for people with cerebral palsy.
Topics: Adolescent; Anti-Dyskinesia Agents; Cerebral Palsy; Child; Child, Preschool; Dystonia; Female; Humans; Male; Trihexyphenidyl
PubMed: 29763510
DOI: 10.1002/14651858.CD012430.pub2 -
Developmental Medicine and Child... Aug 2017To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy... (Review)
Review
AIM
To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP).
METHOD
Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years.
RESULTS
Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale.
INTERPRETATION
Each scale provides useful information about dyskinesia, with most focusing on dystonia. The Barry-Albright Dystonia Scale, which was designed for CP, is the most commonly reported scale and least complex to use clinically. The Dyskinesia Impairment Scale is the only tool to consider both dystonia and choreoathetosis in CP. All tools are designed to classify movement disorders at the level of body functions and structures, rather than activity limitations or participation restrictions, although many provide some insight into the impact of dystonia on activities. Further studies are required to fully examine the validity, reliability, responsiveness, and clinical utility of each scale specifically for children with CP.
Topics: Adolescent; Athetosis; Cerebral Palsy; Child; Child, Preschool; Chorea; Dystonic Disorders; Humans; Infant; Severity of Illness Index
PubMed: 28485494
DOI: 10.1111/dmcn.13452 -
Journal of Child Neurology Feb 2008The American Academy of Neurology now recommends that all cases of cerebral palsy of unknown origin undergo neuroimaging. Controversy surrounds this recommendation... (Review)
Review
The American Academy of Neurology now recommends that all cases of cerebral palsy of unknown origin undergo neuroimaging. Controversy surrounds this recommendation because of concerns about the adequacy of the supporting evidence. This article reviews the evidence provided by magnetic resonance imaging (MRI) and computed tomography (CT) imaging studies in cerebral palsy and discusses the potential benefits of imaging, techniques in current use, and future directions, with a focus on improving etiologic understanding. Most (83%) children with cerebral palsy have abnormal neuroradiological findings, with white matter damage the most common abnormality. Combined gray and white matter abnormalities are more common among children with hemiplegia; isolated white matter abnormalities are more common with bilateral spasticity or athetosis, and with ataxia; isolated gray matter damage is the least common finding. About 10% of cerebral palsy is attributable to brain malformations, and 17% of cerebral palsy cases have no abnormality detectable by conventional MR or CT imaging. Although neuroimaging studies have increased our understanding of the abnormalities in brain development in cerebral palsy, they are less informative than they might be because of 4 common problems: (1) inappropriate assignment of etiology to morphologic findings, (2) inconsistent descriptions of radiologic findings, (3) uncertain relationship of pathologic findings to brain insult timing estimates, and (4) study designs that are not based on generalizable samples. Neuroimaging is not necessarily required for diagnosis of cerebral palsy because the disorder is based on clinical findings. The principal contribution of imaging is to the understanding of etiology and pathogenesis, including ruling in or out conditions that may have implications for genetic counseling, such as malformations. In the future, as more sophisticated imaging procedures are applied to cerebral palsy, specific morphologic findings may be linked to etiologic events or exposures, thus leading to potential pathways for prevention.
Topics: Brain; Brain Damage, Chronic; Cerebral Palsy; Diagnostic Techniques, Neurological; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 18263759
DOI: 10.1177/0883073807307983 -
Journal of Spinal Disorders & Techniques Feb 2005Movement disorders may be associated with advanced cervical myeloradiculopathy, which represents a major management challenge. We report on eight patients with movement... (Review)
Review
OBJECTIVE
Movement disorders may be associated with advanced cervical myeloradiculopathy, which represents a major management challenge. We report on eight patients with movement disorders causing progressive cervical myeloradiculopathy who were treated successfully by cervical decompression and reconstruction.
RESULTS
The mean age of our patients was 44 years with a male/female ratio of 3:1. The average duration of symptoms prior to presentation was 10 months. The most common levels decompressed and reconstructed were C3-C4 and C4-C5. Six cases showed improvement, and two cases showed stabilization of neurologic status at a mean follow-up of 21 months. Our management strategy and results are interpreted in the context of a systematic review of the literature in which 78 cases are reported.
CONCLUSIONS
Movement disorders cause premature cervical spondylosis most commonly involving the C3-C4 and C4-C5 levels. Ventral pathology with kyphotic angulation requires corpectomy or discectomy with or without posterior decompression and reconstruction. Decompression should always be combined with segmental internal fixation. Perioperative use of botulinum toxin and halo vest immobilization can increase the rate of clinical success but requires vigilance to minimize complications. Laminectomy with lateral mass fixation may be used successfully in the absence of kyphotic deformity.
Topics: Adult; Athetosis; Botulinum Toxins; Cervical Vertebrae; Decompression, Surgical; External Fixators; Female; Humans; Internal Fixators; Kyphosis; Magnetic Resonance Imaging; Male; Middle Aged; Movement Disorders; Preoperative Care; Radiculopathy; Radiography; Plastic Surgery Procedures; Spinal Cord Compression; Spinal Fusion; Spinal Osteophytosis; Torticollis; Tourette Syndrome
PubMed: 15699795
DOI: 10.1097/01.bsd.0000128693.44276.86