Results 51 to 60 of about 8,747 (246)
Background: Cervical dystonia, also known as spasmodic torticollis, is a chronic disorder in which patients exhibit involuntary repetitive contractions of neck muscles resulting in abnormal postures or movements.
Miriam Halimi +2 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Disorders of Upper Limb Movements in Ataxia-Telangiectasia. [PDF]
Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia.
Aasef G Shaikh +4 more
doaj +1 more source
Tremor as the onset of dystonia
The diagnosis of tremor is an important medical problem because its clinical variability defines a differential range of diseases. The purpose of this article is to provide a practicing neurologist with screening approaches to diagnosing tremor using a ...
Sabiyat A. Yakhyaeva +2 more
doaj +1 more source
Copy number variation of <i>LINGO1</i> in familial dystonic tremor. [PDF]
To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, dystonic tremor.Whole-genome single nucleotide polymorphism (SNP) microarray analysis was undertaken to look for copy number variants in the ...
Alakbarzade V +17 more
europepmc +6 more sources
Adaptive Brain Stimulation for Movement Disorders [PDF]
Deep brain stimulation (DBS) has markedly changed how we treat movement disorders including Parkinson's disease (PD), dystonia, and essential tremor (ET).
Beudel, M, Cagnan, H, Little, S
core +3 more sources
Tremor cefálico em pacientes com distonia cervical: evolução diferente? [PDF]
OBJECTIVE: The association of cervical dystonia (CD) with other movement disorders have been already described, but data on clinical outcome regarding these patients are scant.
Aguiar, Patricia C. +5 more
core +3 more sources
Genetic issues in the diagnosis of dystonias [PDF]
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core +1 more source
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor.
Enrica Marchionni +8 more
doaj +1 more source
Movement Disorders Presenting in Childhood. [PDF]
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core +1 more source

