dystonia/fatiga muscular

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Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients.

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UNASSIGNED Nonmotor symptoms (NMS) are highly prevalent in cervical dystonia (CD). In general, fatigue and sleep are important NMS that determine a decreased health-related quality of life (HR-QoL), but their influence in CD is unknown. The authors systematically investigated fatigue, excessive

Adult-onset dystonia.

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Dystonia is defined as involuntary sustained muscle contractions producing twisting or squeezing movements and abnormal postures. The movements can be stereotyped and repetitive and they may vary in speed from rapid to slow; sustained contractions can result in fixed postures. Dystonic disorders are

Cervical dystonia - improving the effectiveness of botulinum toxin therapy.

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Cervical dystonia is the most frequent form of focal dystonia. It is characterised by involuntary muscular contractions resulting in abnormal head/neck and shoulder movements and postures, which can be associated with tremor and pain. Local intramuscular injections of botulinum toxin

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

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Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5 years of age manifested perseverations that

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

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BACKGROUND In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the

Infantile-onset paroxysmal dystonia: a diagnostic dilemma.

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A 4-year-old boy presented with a history of paroxysmal dystonic posturing since birth. Episodes were triggered by stress, fatigue, and cold. Sleep, for as short as 1 minute, resulted in complete resolution of dystonia. He was developmentally normal, with no focal neurologic deficits. Cerebrospinal

[Use of citrulline malate (stimol) in patients with autonomic dystonia associated with arterial hypotension].

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To study possibilities of a therapeutic correction of asthenic syndrome in individuals with chronic arterial hypotension with malate citrulline, the study was made of 12 women and 3 men with psychoautonomic syndrome (autonomic dystonia), combined with chronic constitutional arterial hypotension.

DOPA-sensitive dystonia-plus syndrome.

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We report on two sisters with a childhood-onset form of predominantly axial dystonia with marked diurnal fluctuations. Onset of clinical features was at approximately 6 years of age. Associated features included marked fatigue, slight facial dysmorphism, short stature, obesity, and learning

[Dopa-responsive dystonia].

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OBJECTIVE Dystonia is considered to be a prolonged involuntary contractions of the muscles leading to twisting, repetitive movements or irregular postures. Etiologically, it could be classified as primary and secondary dystonia. Dopa-responsive dystonia (DRD) belongs to a group of primary dystonia.

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study.

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Background: Previous studies have indicated that non-motor symptoms are primary problems in focal dystonia, but limited data are available about non-motor problems and their correlation with motor severity in generalized dystonia (GD). Methods: In the present study, we performed a

Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia

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Objectives: Non-motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on health-related quality of life (HRQoL). However, the prevalence of NMS and

Mood and energy determinants of quality of life in dystonia.

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Prior research has demonstrated that dystonia patients may have reductions in numerous measures of quality of life (QOL) when compared to healthy age-matched controls. However, the determinants of QOL in this patient population have not been fully specified. To address this issue, we administered

Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes.

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Myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with M-D. Previous studies suggest, but never tested directly, that the type of

Relationships between Serotonin Transporter Binding in the Raphe Nuclei, Basal Ganglia, and Hippocampus with Clinical Symptoms in Cervical Dystonia: A [11C]DASB Positron Emission Tomography Study.

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UNASSIGNED Alterations of the central serotonergic system have been implicated in the pathophysiology of dystonia. In this molecular imaging study, we assessed whether altered presynaptic serotonin transporter (SERT) binding contributes to the pathophysiology of cervical dystonia (CD), concerning

[Adaptation to physical and psychoemotional loads and mental work capacity in patients with neurocirculatory dystonia].

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Mental performance and adaptation to exercise and psychoemotional loads were studied in 119 patients with neurocirculatory asthenia (NCA), 245 patients with chronic focal infection (CFI) of the upper airways, and 247 NCA patients with CFI. Exercise tolerance was measured at spiroergometry,

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