Results 141 to 150 of about 781,361 (246)

Dystonia

, 2015
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures.
Mark S. LeDoux, LeDoux, Mark S.
core   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Comparison of the effect of intra-dermal injection of botulinum toxin and normal saline in the treatment of facial skin pores

Journal of Family Medicine and Primary Care
Background and Purpose: Skin pores (SPs) are normal and benign skin structures that are mostly located on the face (nose, cheeks, etc.) that cause many aesthetic concerns or complaints.
Nader Pazyar, Saeed Ashoori, Atefeh Mahdianrad, Maryam Seyedtabib   +3 more
doaj   +1 more source

Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia

Non-motor aspects in dystonia are now well recognized. The sense of agency, which refers to the experience of controlling one's own actions, has been scarcely studied in dystonia, even though its disturbances can contribute to movement disorders.
Yulia Worbe (241028), Clément Tarrano (18421251), Eavan McGovern (10045739)   +2 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2568-2574, November 2026.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Therapeutic Reversal of Severe Neuropsychiatric Symptoms in Wilson's Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Wilsons disease is an autosomal recessive genetic disorder of copper metabolism that results in copper accumulation in liver and other organs. Hepatic manifestation tends to occur earlier than the neurological manifestation. We present a case with psychiatric presentation.
Tshering Penjor, Sangay Dorji, Sonam Wangchuk   +2 more
wiley   +1 more source

Smartphone video-based early diagnosis of blepharospasm using dual cross-attention modeling enhanced by facial pose estimation

npj Digital Medicine
Blepharospasm is a focal dystonia characterized by involuntary eyelid contractions that impair vision and social function. The subtle clinical signs of blepharospasm make early and accurate diagnosis difficult, delaying timely intervention. In this study,
Shenyu Huang, Boyuan Yang, Xiaoling Huang, Huina Zhang, Dong Luo, Guanchao Tong, Yijie Wang, Yongqing Shao, Menglu Chen, Qi Gao, Juan Ye   +10 more
doaj   +1 more source

Advances in Multidimensional Molecular Mechanisms of Epilepsy and Precision Therapy Strategies

CNS Neuroscience &Therapeutics, Volume 32, Issue 11, November 2026.
Epilepsy arises from a multidimensional network imbalance, integrating genetic, inflammatory, and metabolic disruptions. This complexity drives neuronal hyperexcitability and underpins therapeutic challenges. Our review highlights how emerging precision strategies, from targeted molecular therapies to neuromodulation, offer a transformative path toward
Yimin Han, Jingxuan Xu, Yuntian Shen, Jitai Zhang, Xia Li, Xinlei Yao, Lei Qi, Hualin Sun   +7 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Depression in blepharospasm: a question of facial feedback?

Neuropsychiatric Disease and Treatment, 2017
Janis Rebecca Bedarf,1 Sied Kebir,1,2 Joan Philipp Michelis,1,3 Bettina Wabbels,4 Sebastian Paus1 1Department of Neurology, University of Bonn, Bonn, 2Department of Neurology, University of Essen, Essen, Germany; 3Movement Disorders Center, Department ...
Bedarf JR, Kebir S, Michelis JP, Wabbels B, Paus S   +4 more
doaj