Results 61 to 70 of about 5,828 (187)

Analysis of hand and head tremor in patients with essential and dystonic tremor [PDF]

, 2023
Hlavním cílem této bakalářské práce bylo navržení protokolu měření esenciálního a dystonického třesu za využití akcelerometrů od firmy Xsens. Měření se zúčastnilo celkem 48 probandů. Pacientů s esenciálním třesem bylo zahrnuto 25 a pacientů s dystonickým
Aneta Pavlíková
core  

Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

Tremor and Other Hyperkinetic Movements, 2016
Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. Case Report: An 11‐year‐old female
Andrew E. Becker, Wendy Vargas, Toni S. Pearson   +2 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Long‐Term Outcomes of Deep Brain Stimulation in Woodhouse–Sakati Syndrome

Movement Disorders, EarlyView.
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with distinctive neuroendocrine manifestations, with dystonia being the most common. No clear guidelines are available for the treatment of dystonia in WSS. Objective The aim was to analyze the impact of deep brain stimulation (DBS) on WSS‐associated dystonia ...
Hend Alhodaif, Yara Alkhodair, Faisal Alotaibi, Salma Alqahtani, Saeed Bohlega, Amaal Aldakheel   +5 more
wiley   +1 more source

Holmes’ Tremor with Shoulder Pain Treated by Deep Brain Stimulation of Unilateral Ventral Intermediate Thalamic Nucleus and Globus Pallidus Internus [PDF]

Journal of Movement Disorders, 2017
A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor.
Sabri Aydın, Huseyin Canaz, Ezgi Tuna Erdogan, Nazlı Durmaz, Barıs Topcular   +4 more
doaj   +1 more source

Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1‐Related Disorders

Movement Disorders Clinical Practice, EarlyView.
Jana Domínguez‐Carral, Juan Darío Ortigoza‐Escobar   +1 more
wiley   +1 more source

Putamen Atrophy as a Predictive Factor of Efficacy of GPi‐DBS in Dystonia‐Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy

Movement Disorders, EarlyView.
Abstract Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option ...
Marylou Grasso, Pierre‐Olivier Moser, Sidonie Sauvageot, Valérie Gil, Emilie Chan‐Seng, Emily Sanrey, Philippe Coubes, Gaëtan Poulen   +7 more
wiley   +1 more source

“Spooning”: A Subtle Sign of Limb Dystonia

Tremor and Other Hyperkinetic Movements, 2018
Background: The diagnosis of dystonia can be clinically challenging due to its heterogeneous presentation; essential tremor (ET) is a more common neurological disorder, but may be mimicked by other movement disorders, including dystonia, leading to ...
Christine Y. Kim, Elan D. Louis
doaj   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source