24,765 results match your criteria: "Dystonias"

Background: Clinical practice suggests that older adults (i.e., ≥ 65 years of age) experience adverse drug reactions (ADRs) more often than younger patients (i.

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Echography-guided Botulinum Toxin for Moving Ear Syndrome.

Tremor Other Hyperkinet Mov (N Y)

November 2024

Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Department of Health Sciences, University of Milan, Milan, Italy.

Background: Moving Ear Syndrome is a rare hyperkinetic disorder.

Phenomenology Shown: This Video Abstract illustrates typical backward movements of the right ear associated with pain and discomfort in a man with Moving Ear Syndrome.

Educational Value: Moving Ear Syndrome is effectively and safely treatable with EMG-US-guided botulinum toxin injections.

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Sjogren's syndrome is an autoimmune disorder that has a prominent involvement of exocrine glands. Systemic involvement of other organs can also happen. Peripheral nervous system involvement is common and may present as axonal sensory/sensorimotor or demyelinating polyneuropathy, mononeuritis multiplex, ganglionopathy, or cranial neuritis.

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Prevalence, correlates, tolerability-related outcomes, and efficacy-related outcomes of antipsychotic polypharmacy: a systematic review and meta-analysis.

Lancet Psychiatry

December 2024

Department of Psychiatry, Zucker Hillside Hospital, Northwell Health, Glen Oaks, NY, USA; Department of Psychiatry and Molecular Medicine, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA; Center for Psychiatric Neuroscience, Feinstein Institute for Medical Research, Manhasset, NY, USA; Department of Child and Adolescent Psychiatry, Charité Universitätsmedizin, Berlin, Germany; German Center for Mental Health (DZPG), partner site Berlin, Germany.

Article Synopsis
  • Antipsychotic polypharmacy, or the use of multiple antipsychotic medications, is common in clinical practice, but it carries a higher risk of side effects and there's little proof that it works better than using a single medication.
  • A systematic review analyzed 517 studies involving over 4.4 million individuals to determine the prevalence and trends of antipsychotic polypharmacy across different mental disorders.
  • The findings revealed that 24.8% of individuals were using multiple antipsychotics, with higher rates in those with schizophrenia spectrum disorders and significant regional variations, showing an overall trend of increasing polypharmacy from 1970 to 2023.
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Differentiating Essential and Dystonic Head Tremor: Exploring Arm Position Effects.

Mov Disord Clin Pract

November 2024

Department of Neurology and Centre of Clinical Neuroscience, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.

Background: Head tremor poses diagnostic problems, especially when present as an isolated or predominant symptom.

Objectives: To assess how maneuvers activating upper limb postural tremor can help differentiate head tremor in essential tremor (ET) from dystonic tremor (DT) in cervical dystonia.

Methods: 48 patients with head tremor (25 ET, 23 DT), underwent clinical examination and accelerometric evaluation of head and upper limb tremor during routine tremor-inducing tasks.

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The hanger reflex is an automatic head rotation movement. When individuals wear a wire clothes hanger on the head to compress the frontotemporal region, the head spontaneously rotates toward the compressed side. The device to induce the hanger reflex was first developed for treating rotation-type cervical dystonia, followed by the development of a device for anterocollis-type cervical dystonia.

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Introduction: Antipsychotic-induced dystonia is a neurological side-effect and can be very disabling. Treatment is multidisciplinary, including physiotherapy.

Objective: The aim was to show the contribution of physiotherapy in the management of people suffering from dystonia secondary to antipsychotics.

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Article Synopsis
  • Mono-allelic DHDDS variants lead to a range of neurological issues, including seizures, intellectual disabilities, and movement disorders, with symptoms beginning at different ages and progressing variably among patients.
  • A study of 59 patients revealed that while symptoms often start early, the onset and development can differ widely, with some experiencing the full range in childhood and others in adulthood.
  • No clear links were found between symptom onset or progression and factors like patient sex or specific DHDDS variants, but 19% of patients also showed signs of autism spectrum disorder, highlighting its relevance in managing the condition.
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Background: Lipoyl transferase 2 is involved in the biosynthesis of lipoate. Lipoate is the cofactor for the glycine cleavage system and four dehydrogenase enzymes. Biallelic variants in LIPT2 causing severe neonatal encephalopathy was first described in 2017.

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Manganese is an essential trace mineral that has a vital role in maintaining various body functions. Manganese toxicity, referred to as Manganism, causing parkinsonism is a well-known phenomenon that occurs secondary to chronic environmental and occupational exposure to manganese. Patients with underlying chronic liver disease are also susceptible to the toxic accumulation of manganese since it essentially undergoes biliary excretion.

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We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.

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Acute Focal Dystonia as a Presentation of Uncontrolled Hyperglycemia.

Cureus

October 2024

Neurology, Piedmont Healthcare, Columbus, USA.

Hyperglycemia-induced involuntary movements (HIIM) include tremors, hemichorea-hemiballismus (HCHB), and more rarely, dystonia. Presentations may vary, but hyperintensity involving the basal ganglia area on the T1 sequence of MRI brain remains a commonality.  We report the occurrence of focal dystonia with uncontrolled hyperglycemia but no focal abnormalities on MRI.

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Article Synopsis
  • - A study was conducted to compare various surgical techniques for treating cervical dystonia (CD) through a network meta-analysis, as the best approach is still debated in the medical community.
  • - The analysis included 55 trials with over 2000 patients across five surgical strategies, showing that all methods significantly improved patients' condition, especially deep brain stimulation (DBS) methods.
  • - The findings suggest that DBS, particularly targeting the globus pallidus internus (GPi), is the most effective surgical option for CD, with both GPi and subthalamic nucleus (STN) DBS showing better long-term outcomes compared to selective peripheral denervation (SPD).
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Mutations in the gene encoding the alpha3 Na+/K+-ATPase isoform (ATP1A3) lead to movement disorders that manifest with dystonia, a common neurological symptom with many different origins, but for which the underlying molecular mechanisms remain poorly understood. We have generated an ATP1A3 mutant mouse that displays motor impairments and a hyperexcitable motor phenotype compatible with dystonia. We show that neurons harboring this mutation are compromised in their ability to extrude raised levels of intracellular sodium, highlighting a profound deficit in neuronal sodium homeostasis.

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Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient.

Parkinsonism Relat Disord

October 2024

Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, 15, Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia; Neurology Department, LR18SP03, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia.

Article Synopsis
  • - Dopa-responsive dystonia (DRD) is a genetic disorder characterized by symptoms similar to Parkinson's disease and dystonia, caused by changes in the GCH1 gene affecting dopamine production.
  • - This case report is unique as it connects childhood-onset DRD with amyotrophic lateral sclerosis (ALS), indicating a potential link between these two conditions.
  • - The findings suggest that the diverse genetic backgrounds in the North African population might play a role in the occurrence of multiple related disorders.
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A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements.

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Symptoms of "the yips" manifest in various sports and often cause athletes to retire prematurely from competition. While there have been case studies on yips-affected baseballers (YBBs), there has been no comprehensive demographic profile of YBBs, and contributing factors are only partially understood. We aimed to describe youth YBBs' demographic characteristics and explore contributing factors to yips symptoms.

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Pregnancy in Dystonia or Tourette's Patients with DBS. Fourteen News Cases and a Review of the Literature.

Mov Disord Clin Pract

November 2024

Department of Neurology, University of Texas Health Science Center at Houston, McGovern Medical School, Houston, Texas, USA.

Article Synopsis
  • Deep Brain Stimulation (DBS) has shown to improve the quality of life for patients with severe forms of dystonia and Tourette's syndrome, leading to increased occurrences of pregnancy in these patients.
  • A total of 14 new pregnancies were documented in patients with either dystonia or Tourette's syndrome who have undergone DBS, alongside a review of 23 previously reported pregnancies.
  • The findings suggest that DBS is not linked to negative pregnancy outcomes, but emphasize the need for coordinated care among medical professionals and the creation of a registry to improve clinical guidelines for these patients.
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Background And Importance: Intrathecal baclofen (ITB) pumps are used for the treatment of pediatric movement disorders that are rapidly progressive or do not respond to medical management. An ITB test dose is indicated in patients who have mixed tone, when the family remains unconvinced, or when insurance companies require it. Test doses are typically delivered by lumbar puncture; however, lumbar puncture in patients with heterotopic ossification of the lumbar vertebrae after a previous spinal fusion is not possible.

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Background: Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. variants cause varied phenotypic presentations.

Case Report: A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia.

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Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report.

BMC Neurol

November 2024

Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8677, Japan.

Background: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in exon 10 of ATXN3. Extra-cerebellar manifestations, including external ophthalmoplegia, dystonia, Parkinsonism, and peripheral neuropathy, are predominantly present in SCA3 cases. Here, we report a case of SCA3 presenting with a split hand and minipolymyoclonus.

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Systematic Review of Obstetric and Child Outcomes of Prenatal Exposure to Inhalants in the Context of a Use Disorder.

J Addict Med

November 2024

From the University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC (ESK); Addiction Medical Services of Wisconsin, Onalaska, WI (CWS); Health Sciences Library, University of North Carolina at Chapel Hill, Chapel Hill, NC (JLC); and Horizons Division and Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Chapel Hill, NC, and Departments of Psychiatry and Behavioral Sciences and Obstetrics and Gynecology, School of Medicine, Johns Hopkins University, Baltimore, MD (HEJ).

Objectives: Inhalants are often used for their psychoactive effects, producing feelings of euphoria. Inhalant and solvent use is a serious public health concern, yet little is known about their effects on perinatal, fetal, and child outcomes. The aim of our review is to evaluate the impact of inhalant use by pregnant people on maternal, fetal, neonatal, and early childhood outcomes.

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