Results 61 to 70 of about 600,253 (216)
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
A guide to neuromodulation in drug‐resistant epilepsy
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh +10 more
wiley +1 more source
Abnormalities in the somatosensory system are increasingly being recognized in patients with dystonia. The aim of this study was to investigate whether sensory abnormalities are confined to the dystonic body segments or whether there is a wider ...
Lejla Paracka +10 more
doaj +1 more source
The Pain in Dystonia Scale (PIDS)—Validation in Craniofacial and Upper Limb Dystonia
ABSTRACT Background Pain is one of the most disabling non‐motor symptoms in adult‐onset isolated dystonia (AOID). The Pain in Dystonia Scale (PIDS) was developed and validated in cervical dystonia. Its applicability to other focal subtypes remains unknown.
Veronica Bruno +24 more
wiley +1 more source
INTERFAMILIAL POLYMORPHISM OF TYPE 1 DYSTONIA
Background: The most frequent mutation of the gene TOR1A (DYT1) (9q34), that causes type 1 dystonia (DOPA-unresponsive torsion dystonia) is the deletion c.907-909delGAG in the 5th exon of the gene (303delGlu).
K. A. Ostapchuk +5 more
doaj +1 more source
Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law +7 more
wiley +1 more source
Background Secondary cervical dystonia is induced by organic brain lesions involving the basal ganglia, thalamus, cerebellum, and brain stem. It is extremely rare to see cervical dystonia induced by a medullary lesion.
Takashi Ogawa +5 more
doaj +1 more source
Abstract Background Hyperkinetic movement disorders, including dystonia, tremor, and myoclonus, are disabling conditions often managed with botulinum toxin type A (BoNT‐A). Real‐world evidence on treatment patterns remains limited. Objective This nationwide, population‐based study aimed to evaluate trends in BoNT‐A use in France between 2015 and 2023 ...
Marion Simonetta‐Moreau +3 more
wiley +1 more source
Botulinum toxin type A in the treatment of patients with cervical dystonia
Allison BrashearDept of Neurology, Wake Forest University Baptist, Medical Center, Winston Salem, NC, USAAbstract: Dystonia is an involuntary movement involving twisting and turning of agonist and antagonist muscles. Cervical dystonia is isolated to neck
Allison Brashear
doaj
Cervical dystonia is the most common focal dystonia affecting adults. It frequently causes postural control problems, neck pain and spasm attacks of the cervical musculature. One of the surgical options available is selective cervical denervation.
Hugues Ghislain Atakla +10 more
doaj +1 more source

