keyword
MENU ▼
Read by QxMD icon Read
search

dystonia

keyword
https://www.readbyqxmd.com/read/29772695/botulinum-toxin-type-a-injection-for-cervical-dystonia-in-adults-with-dyskinetic-cerebral-palsy
#1
You Gyoung Yi, Keewon Kim, Youbin Yi, Young-Ah Choi, Ja-Ho Leigh, Moon Suk Bang
We aimed to evaluate the efficacy and safety of injecting botulinum toxin A (BoNT-A) into the neck muscles to treat cervical dystonia (CD) in patients with dyskinetic cerebral palsy (CP). This was a randomized, double-blinded, placebo-controlled trial with cross-over design. We prospectively enrolled adults with dyskinetic CP who were over 20 years old and had been clinically diagnosed with CD for more than one year. The primary outcome measure was the change in Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) at four weeks from the baseline TWSTRS...
May 16, 2018: Toxins
https://www.readbyqxmd.com/read/29770609/whole-exome-sequencing-for-variant-discovery-in-blepharospasm
#2
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly, Ryan J Uitti, Jay A van Gerpen, Peter Hedera, Elizabeth J Trimble, Mark S LeDoux
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole-exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#3
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29769175/management-of-dystonia-in-paediatric-palliative-care
#4
Thomas Slater, Gillian Hughes, Daniel E Lumsden, Joanna Laddie
No abstract text is available yet for this article.
May 16, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29768338/botulinum-toxin-injection-to-improve-functional-independence-and-to-alleviate-parenting-stress-in-a-child-with-advanced-pantothenate-kinase-associated-neurodegeneration-a-case-report-and-literature-review
#5
Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation are usually ineffective. Botulinum toxin type A (BoNT-A) is effective for adult patients with dystonia or spasticity. PATIENT CONCERNS: We reported a 10-year-old female patient with advanced PKAN, manifesting as generalized dystonia and spasticity...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766748/medical-cannabis-for-pediatric-moderate-to-severe-complex-motor-disorders
#6
Stephanie Libzon, Lihi Bar-Lev Schleider, Naama Saban, Luda Levit, Yulia Tamari, Ilan Linder, Tally Lerman-Sagie, Lubov Blumkin
A complex motor disorder is a combination of various types of abnormal movements that are associated with impaired quality of life (QOL). Current therapeutic options are limited. We studied the efficacy, safety, and tolerability of medical cannabis in children with complex motor disorder. This pilot study was approved by the institutional ethics committee. Two products of cannabidiol (CBD) enriched 5% oil formulation of cannabis were compared: one with 0.25% δ-9-tetrahydrocannabinol (THC) 20:1 group, the other with 0...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29766338/an-unusual-surgical-indication-for-cerebral-tuberculosis-status-dystonicus-case-report
#7
Andrea Franzini, Angelo Franzini, Vincenzo Levi, Roberto Cordella, Giuseppe Messina
Actual indications for surgery in tuberculosis are limited to obtaining a diagnosis, acquiring tissue for culture studies, treating hydrocephalus, aspiring a brain abscess, and reducing intracranial pressure in patients with multiple tuberculomas. Tuberculosis-related movement disorders are usually treated pharmacologically. We report on a child affected by post-tubercular generalized dystonia, who progressed to status dystonicus (SD) and underwent stereotactic bilateral pallidotomy. After surgery, SD resolved, and drugs were rapidly tapered...
May 15, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29765892/botulinum-toxin-a-injection-in-the-treatment-of-spasticity-in-a-infantile-onset-neurodegeneration-with-brain-iron-accumulation-a-case-report
#8
Hwan Kwon Do, Geun Yeol Jo, Jun Koo Kwon, Woo Jin Kim
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting PANK2 mutation...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29763510/trihexyphenidyl-for-dystonia-in-cerebral-palsy
#9
REVIEW
Adrienne R Harvey, Louise B Baker, Dinah Susan Reddihough, Adam Scheinberg, Katrina Williams
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...
May 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29759327/immunotherapy-responsive-childhood-neurodegeneration-with-systemic-and-central-nervous-system-inflammation
#10
Mario Sa, Yael Hacohen, Lucy Alderson, W K Kling Chong, Glenn Anderson, Thomas S Jacques, David Neubauer, Elzbieta Szczepanik, Ming Lim, Marios Kaliakatsos
Subacute neuroregression in association with raised neopterin and overexpression of interferon stimulated genes (ISGs) could indicate a type 1 interferonopathy. Here we describe a novel immunotherapy-responsive, clinico-immunological and imaging phenotype with evidence of innate immune activation. Three children (patient 1: 22-month-old boy; patient 2: 5-year-old girl; patient 3: 4-year-old girl) presented with asymmetric bilateral mixed dystonia and spasticity, regression in language (expressive more than receptive) and bulbar symptoms with no evidence of seizures...
April 27, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29758999/movement-disorders-associated-with-antipsychotic-medication-in-people-with-schizophrenia-an-overview-of-cochrane-reviews-and-meta-analysis
#11
Davide Martino, Vikram Karnik, Sydney Osland, Thomas R E Barnes, Tamara M Pringsheim
Movement disorders associated with antipsychotic medications are relatively common, stigmatising, and potentially disabling. Their prevalence in people with psychosis who are prescribed second-generation antipsychotics (SGAs) is uncertain, as is their level of recognition by clinicinas. We conducted meta-analyses of randomised controlled trials included in the Cochrane Database of Systematic Reviews on schizophrenia and schizophrenia-like psychoses to estimate the prevalence of new-onset dystonia, akathisia, parkinsonism, and tremor with SGAs (amisulpride, asenapine, aripiprazole, clozapine, olanzapine, paliperidone, quetiapine, risperidone, L-sulpiride, and ziprasidone) approved in Canada and the UK, comparing them with haloperidol and chlorpromazine...
January 1, 2018: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/29752303/typical-features-of-parkinson-disease-and-diagnostic-challenges-with-microdeletion-22q11-2
#12
Erik Boot, Nancy J Butcher, Sean Udow, Connie Marras, Kin Y Mok, Satoshi Kaneko, Matthew J Barrett, Paolo Prontera, Brian D Berman, Mario Masellis, Boris Dufournet, Karine Nguyen, Perrine Charles, Eugénie Mutez, Teodor Danaila, Aurélia Jacquette, Olivier Colin, Sophie Drapier, Michel Borg, Ania M Fiksinski, Elfi Vergaelen, Ann Swillen, Annick Vogels, Annika Plate, Claudia Perandones, Thomas Gasser, Kristien Clerinx, Frédéric Bourdain, Kelly Mills, Nigel M Williams, Nicholas W Wood, Jan Booij, Anthony E Lang, Anne S Bassett
OBJECTIVE: To delineate the natural history, diagnosis, and treatment response of Parkinson disease (PD) in individuals with 22q11.2 deletion syndrome (22q11.2DS), and to determine if these patients differ from those with idiopathic PD. METHODS: In this international observational study, we characterized the clinical and neuroimaging features of 45 individuals with 22q11.2DS and PD (mean follow-up 7.5 ± 4.1 years). RESULTS: 22q11.2DS PD had a typical male excess (32 male, 71...
May 11, 2018: Neurology
https://www.readbyqxmd.com/read/29751598/informed-consent-decision-making-in-deep-brain-stimulation
#13
REVIEW
Gabriele Mandarelli, Germana Moretti, Massimo Pasquini, Giuseppe Nicolò, Stefano Ferracuti
Deep brain stimulation (DBS) has proved useful for several movement disorders (Parkinson’s disease, essential tremor, dystonia), in which first and/or second line pharmacological treatments were inefficacious. Initial evidence of DBS efficacy exists for refractory obsessive-compulsive disorder, treatment-resistant major depressive disorder, and impulse control disorders. Ethical concerns have been raised about the use of an invasive surgical approach involving the central nervous system in patients with possible impairment in cognitive functioning and decision-making capacity...
May 11, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29750732/the-patchy-tremor-landscape-recent-advances-in-pathophysiology
#14
Freek Nieuwhof, Pattamon Panyakaew, Bart P van de Warrenburg, Cecile Gallea, Rick C Helmich
PURPOSE OF REVIEW: We focus on new insights in the pathophysiology of Parkinson's disease tremor, essential tremor, tremor in dystonia, and orthostatic tremor. RECENT FINDINGS: Neuroimaging findings suggest that Parkinson's disease resting tremor is associated with dopaminergic dysfunction, serotonergic dysfunction, or both. Not all tremors in Parkinson's disease have the same pathophysiology: postural tremor in Parkinson's disease can be subdivided into pure postural tremor, which involves nondopaminergic mechanisms, and re-emergent tremor, which has a dopaminergic basis...
May 9, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29746896/insights-into-cerebellar-development-and-connectivity
#15
REVIEW
Jaclyn Beckinghausen, Roy V Sillitoe
The cerebellum has a well-established role in controlling motor functions such coordination, balance, posture, and skilled learning. There is mounting evidence that it might also play a critical role in non-motor functions such as cognition and emotion. It is therefore not surprising that cerebellar deficits are associated with a wide array of diseases including ataxia, dystonia tremor, schizophrenia, dyslexia, and autism spectrum disorder. What is intriguing is that a seemingly uniform circuit that is often described as being "simple" should carry out all of these behaviors...
May 7, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29746398/dystonia-as-a-network-disorder-a-concept-in-evolution
#16
Tommaso Schirinzi, Giuseppe Sciamanna, Nicola B Mercuri, Antonio Pisani
PURPOSE OF REVIEW: This survey takes into consideration the most recent advances in both human degenerative ataxias, disorders with a well established cerebellar origin, and discoveries from dystonia rodent models aimed at discussing the pathogenesis of dystonia. RECENT FINDINGS: One common recurrent term that emerges when describing dystonia is heterogeneity. Indeed, dystonia encompasses a wide group of 'hyperkinetic' movement disorders, with heterogeneous causes, classification, anatomical and physiological substrates...
May 8, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29739751/dynamic-nuclear-envelope-phenotype-in-rats-overexpressing-mutated-human-torsina-protein
#17
Libo Yu-Taeger, Viktoria Gaiser, Larissa Lotzer, Tina Roenisch, Benedikt Timo Fabry, Janice Stricker-Shaver, Nicolas Casadei, Michael Walter, Martin Schaller, Olaf Riess, Huu Phuc Nguyen, Thomas Ott, Kathrin Grundmann-Hauser
A three-base-pair deletion in the human TOR1A gene is causative for the most common form of primary dystonia, the early-onset dystonia type 1 (DYT1 dystonia). The pathophysiological consequences of this mutation are still unknown.To study the pathology of the mutant torsinA (TOR1A) protein, we have generated a transgenic rat line that overexpresses the human mutant protein under the control of the human TOR1A promoter. This new animal model was phenotyped with several approaches, including behavioral tests and neuropathological analyses...
May 8, 2018: Biology Open
https://www.readbyqxmd.com/read/29737565/pain-processing-in-functional-and-idiopathic-dystonia-an-exploratory-study
#18
Francesca Morgante, Angela Matinella, Elisa Andrenelli, Lucia Ricciardi, Cosimo Allegra, Carmen Terranova, Paolo Girlanda, Michele Tinazzi
BACKGROUND: Pain is often experienced by patients with functional dystonia and idiopathic cervical dystonia and is likely to be determined by different neural mechanisms. OBJECTIVE: In this exploratory study, we tested the sensory-discriminative and cognitive-emotional component of pain in patients with functional and idiopathic dystonia. METHODS: Ten patients with idiopathic cervical dystonia, 12 patients with functional dystonia, and 16 age- and sex-matched healthy controls underwent psychophysical testing of tactile and pain thresholds and pain tolerance...
May 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29736135/-the-twisted-mind-psychogenic-dystonia-in-an-adolescent-responding-to-antidepressant-therapy
#19
Seshadri Sekhar Chatterjee, Soumitra DAS, Sukanya Gupta, Sanhita Bhattacharya
Psychogenic dystonia is one of the most common problems encountered in movement disorder patients and accounted mostly for misdiagnosis, management confusion and treatment resistance. Psychiatric morbidities often are the culprit, hence proper psychiatric history taking is of utmost importance. Here we report one case where dystonia was the main presenting complaint of an underlying depressive episode and discuss how managing the cause alleviated the symptoms.
April 25, 2018: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#20
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
keyword
keyword
6608
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"