Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The hemodynamic reactions of 30 patients with neurocirculatory dystonia (NCD, DaCosta's syndrome) were compared to those of 30 healthy controls during the isometric handgrip test, orthostatic test, Valsalva test and the cold pressor test. The effects of hyperventilation on the ability to hold the breath were studied in both groups using the hyperventilation test. The patients and controls were young men, who were doing their conscript service, and the average age was 20 years in both groups. The diagnosis of NCD was made using the criteria described by Friedman (1947). The patients had several symptoms related to the cardiorespiratory system, the intensity of which varied from time to time and were not closely related to physical effort. In order to exclude organic diseases that could have caused the symptoms the patients were required to have no history of chronic organic diseases. They were also required to have no infectious diseases nor to be convalescents when participating in this study and to have a normal ECG and a normal thorax x-ray. The controls were anamnestically free from chronic diseases. The changes in the blood pressure, heart rate, stroke volume, cardiac index, peripheral vascular resistance and the systolic time intervals during the four tests were measured noninvasively using sphygmomanometry, electro-, phono- and impedance cardiography. The ability to hold the breath after a deep inspiration was similar in the two groups. Immediately after hyperventilation the ability to hold the breath did not improve in the NCD group as much as in the control group. In the orthostatic test the rise in the mean blood pressure was only momentarily greater in the control group than in the NCD group, and the heart rate increased about equally in the two groups. The transthoracic impedance increased significantly more in the controls than in the patients in the head-up position. The alterations in the systolic time intervals immediately after the changes of posture were more rapid in the control group that in the NCD group. During the expiratory strain of the Valsalva maneuver the hemodynamic changes in the two groups did not clearly differ from each other, but after the end of the strain the blood pressure overshoot lasted longer in the NCD group than in the control group. During the cold immersion the stroke volume decreased significantly more in the NCD group than in the control group. The stroke work index increased significantly in the control group, but did not change in the NCD group during the immersion.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Hemodynamic reactions to circulatory stress tests in patients with neurocirculatory dystonia. 659 40

Infectious disease is a rare cause of parkinsonism. We report a 7-year-old boy who developed flu-like symptoms followed by parkinsonian features including hypophonia, hypomimia, bradykinesia, and dystonia. A T2-weighted brain magnetic resonance imaging showed high signal intensities in both basal ganglia. The results of serial serologic tests of Mycoplasma pneumonia antibody suggest that this movement disorder was associated with Mycoplasma pneumonia infection. The patient's symptoms gradually resolved, and the basal ganglionic lesions disappeared on follow-up magnetic resonance imaging.
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PMID:Reversible parkinsonism and dystonia following probable mycoplasma pneumoniae infection. 756 36

Glutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine, which can be detected by gas chromatography-mass spectrometry of organic acids or tandem mass spectrometry of acylcarnitines. Clinically, the disease course is usually determined by acute encephalopathic crises precipitated by infectious diseases, immunizations, and surgery during infancy or childhood. The characteristic neurological sequel is acute striatal injury and, subsequently, dystonia. During the last three decades attempts have been made to establish and optimize therapy for GCDH deficiency. Maintenance treatment consisting of a diet combined with oral supplementation of L: -carnitine, and an intensified emergency treatment during acute episodes of intercurrent illness have been applied to the majority of patients. This treatment strategy has significantly reduced the frequency of acute encephalopathic crises in early-diagnosed patients. Therefore, GCDH deficiency is now considered to be a treatable condition. However, significant differences exist in the diagnostic procedure and management of affected patients so that there is a wide variation of the outcome, in particular of pre-symptomatically diagnosed patients. At this time of rapid expansion of neonatal screening for GCDH deficiency, the major aim of this guideline is to re-assess the common practice and to formulate recommendations for diagnosis and management of GCDH deficiency based on the best available evidence.
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PMID:Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). 1720 77

Infection in the context of implant surgery is a dreaded complication, usually necessitating the removal of all affected hardware. Severe dystonia is a debilitating condition that can present as an emergency and can occasionally be life threatening. The authors present 2 cases of severe dystonia in which deep brain stimulation was maintained despite the presence of infection, using ongoing stimulation by externalization of electrode wires and an extracorporeal pulse generator. This allowed the infection to clear and wounds to heal while maintaining stimulation. This strategy is similar to that used in the management of infected cardiac pacemakers. The authors suggest that this prolonged extracorporeal stimulation should be considered by neurosurgeons in the face of this difficult clinical situation.
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PMID:Maintained deep brain stimulation for severe dystonia despite infection by using externalized electrodes and an extracorporeal pulse generator. 2000 87

Therapeutic RNA interference (RNAi) has emerged as a promising approach for the treatment of many incurable diseases, including cancer, infectious disease or neurodegenerative disorders. Demonstration of efficacy and safety in animal models is necessary before planning human application. Our group and others have previously shown the potential of this approach for the dominantly inherited neurological disease DYT1 dystonia by achieving potent short-hairpin RNA (shRNA)-mediated silencing of the disease protein, torsinA, in cultured cells. To establish the feasibility of this approach in vivo, we pursued viral delivery of shRNA in two different mouse models. Surprisingly, intrastriatal injections of adeno-associated virus serotype 2/1 (AAV2/1) vectors expressing different shRNAs, whether targeting torsinA expression or mismatched controls, resulted in significant toxicity with progressive weight loss, motor dysfunction and animal demise. Histological analysis showed shRNA-induced neurodegeneration. Toxicity was not observed in animals that received control AAV2/1 encoding no shRNA, and was independent of genotype, occurring in both DYT1 and wild-type animals. Interestingly, the different genetic background of both mouse models influenced toxicity, being earlier and more severe in 129/SvEv than in C57BL/6 mice. In conclusion, our studies demonstrate that expression of shRNA in the mammalian brain can lead to lethal toxicity. Furthermore, the genetic background of rodents modifies their sensitivity to this form of toxicity, a factor that should be taken into consideration in the design of preclinical therapeutic RNAi trials.
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PMID:Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design. 2136

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.
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PMID:Diagnosis and management of glutaric aciduria type I--revised recommendations. 2143 22

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder of the hematopoietic stem cell that makes blood cells more sensitive to the action of complement. Patients experience intravascular hemolysis, smooth muscle dystonia, renal failure, arterial and pulmonary hypertension, recurrent infectious diseases and an increased risk of notably dreadful thrombotic complications. The diagnosis is made by flow cytometry. Efforts have been recently performed to improve the sensitivity and the standardization of this technique. PNH is frequently associated with aplastic anemia or low-risk myelodysplasia and may be asymptomatic. Management of the classical form of PNH has been dramatically revolutionized by the development of eculizumab, which brings benefits in terms of hemolysis, quality of life, renal function, thrombotic risk, and life expectancy. Prophylaxis and treatment of arterial and venous thrombosis currently remain a challenge in PNH.
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PMID:Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review. 2575

The gens Julia was one of the oldest families in ancient Rome, whose members reached the highest positions of power. They made history because Julius Caesar, perpetual dictator, great-uncle of the first emperor, Augustus, passed his name on to the Julio-Claudian dynasty with the emperors Tiberius, Caligula, Claudius and Nero. Descriptions of the diseases of these emperors and some of his family members may indicate diagnoses such as epilepsy, dystonia, dementia, encephalitis, neurosyphilis, peripheral neuropathies, dyslexia, migraine and sleep disorders. In the historical context of ancient Rome, the possibility of infectious diseases related to the libertine way of life is quite large. However, there is a possibility that some of these diseases occurred from genetic transmission.
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PMID:Searching for neurological diseases in the Julio-Claudian dynasty of the Roman Empire. 2936 95