Results 111 to 120 of about 81,579 (355)
ADCY5‐Mosaic Variants: A Diagnosis Not to Be Missed
Movement Disorders Clinical Practice, EarlyView.Abstract Background An increasing number of ADCY5‐mosaic patients, seemingly with a milder phenotype, are being identified. However, an in‐depth assessment of their clinical characteristics is lacking. Cases We collected and analyzed data from 12 consecutive ADCY5‐mosaic patients diagnosed at our center and 7 cases from the literature; 63% of the ...
Alice Innocenti +20 more
wiley +1 more source
Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation
DystoniaBackground: THAP1 mutation dystonia is a known genetic cause of generalized dystonia. THAP1 mutation frequently presents with clinical features of bulbar dysfunction, including oromandibular and lingual dystonia.
Aparna Wagle Shukla +3 more
doaj +1 more source
Phenothiazine-induced dystonia associated with an increase in serum creatine phosphokinase. [PDF]
, 1979 W. Y. Lui
openalex +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Parkinson's disease (PD) is a neurodegenerative disorder associated with motor and nonmotor symptoms. Objectives This study assesses levodopa dose management, the therapeutic goals of clinicians, the factors that influence clinicians' choice of therapy, and the role of nonmotor symptoms using real‐world evidence from Germany, Italy,
Fabrizio Stocchi +2 more
wiley +1 more source
The Genetics of Dystonias [PDF]
, 2012 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. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders ...
openaire +3 more sources
Mechanisms of GNAL linked dystonia
DystoniaMutations in the GNAL gene, encoding Gαolf, are causative for an adult-onset, isolated dystonia that may provide unique insights into the etiology of adult-onset idiopathic dystonia. Gαolf is an alpha subunit of heterotrimeric G protein that replaces Gαs
Mark S. Moehle
doaj +1 more source
DystoniaObjectiveTremor is a frequent co-occurring feature in patients with dystonia, especially in focal and segmental dystonia. Clinical studies have shown that tremor is more commonly observed when dystonia spreads to contiguous body regions.
Zakia Jabarkheel, Aparna Wagle Shukla
doaj +1 more source