Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect! [PDF]
While ATPase Copper Transporting Beta (ATP7B), Dystonia-1 (DYT-1), Lysine (K) Methyl transferase 2B (KMT2B), and Adenylate Cyclase 5 (ADCY5) gene mutations are well-characterized causes of childhood-onset choreo-dystonic movement disorders, G protein ...
Manas Saxena +4 more
doaj +2 more sources
Dystonic Movement Disorder as Symptom of Catatonia in Autism Spectrum Disorder
Background. Catatonia is increasingly recognized as a comorbid psychiatric condition in autism spectrum disorder (ASD), but the overlap of behavioral characteristics between these disorders raises many diagnostic challenges.
Maria Pia Riccio +4 more
doaj +5 more sources
CTNNB1-related disorders: clinical and radiological contributions from a French cohort [PDF]
CTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined.
Eline Chauvet-Piat +32 more
doaj +2 more sources
Beyond Improvement of Motor Symptoms: Central Effects of Botulinum Toxin on Anxiety and Depression in Focal Dystonia, Hemifacial Spasm, and Blepharospasm [PDF]
Cervical dystonia (CD), blepharospasm (BSP), and idiopathic hemifacial spasm (HFS) are focal hyperkinetic movement disorders with distinct underlying mechanisms.
Tihana Gilman Kuric +10 more
doaj +2 more sources
WARS2-Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review [PDF]
Mitochondrial WARS2-related disorders are known to exhibit a broad phenotypic spectrum, ranging from infantile-onset epilepsy syndromes to hyperkinetic movement disorders. We report a case of an 11-year-old male who presented with tremors, dystonic falls,
Shabnam Kalita +3 more
doaj +2 more sources
Single Dose Levosulpiride Induced Acute Dystonic Reaction
Movement disorders are a common presentation to the emergency department. Acute dystonic reactions pose a serious medical challenge because they are often under or misdiagnosed.
Suhrith Bhattaram, Varsha S Shinde
doaj +1 more source
Diagnosis and treatment of functional dystonia
Functional dystonia is one of the most common phenotypes of functional movement disorder (FMD). Multiple clinical manifestations of functional dystonia are complex and some symptoms overlap with idiopathic dystonia.
LI Shu‑hua, SU Wen, CHEN Hai‑bo
doaj +1 more source
Faciobrachial dystonic seizure-like events in a patient with subacute sclerosing panencephalitis
Faciobrachial dystonic seizure is a distinctive phenomenology that is considered pathognomonic of leucine-rich glioma-inactivated protein 1 (LGI1) antibody-associated autoimmune limbic encephalitis.
Vikram V Holla +5 more
doaj +1 more source
Faciobrachial Dystonic Seizures: The Borderland Between Epilepsy and Movement Disorders [PDF]
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Alessandra Morano +3 more
openaire +3 more sources
The Central Effects of Botulinum Toxin in Dystonia and Spasticity
In dystonic and spastic movement disorders, however different in their pathophysiological mechanisms, a similar impairment of sensorimotor control with special emphasis on afferentation is assumed.
Pavel Hok +4 more
doaj +1 more source

