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

Medical treatment of childhood-onset dystonia can lead to substantial improvement of the condition, often with much more pronounced benefit than in adults. The authors give every patient a trial of levodopa to assess the possible diagnosis of dopa-responsive dystonia, followed-up with centrally acting anticholinergics such as trihexiphenydil. If needed, baclofen or clonazepam is added or substituted. In focal dystonia or segmental and generalized dystonia with prominent involvement of specific muscle groups, botulinum toxin injections are often used. Pallidal deep brain stimulation is offered to selected patients with medically refractory dystonia. Treatment of secondary dystonias, caused by such conditions as Wilson's disease, requires therapy for the underlying disorder. Physical therapy, splints, and occupational therapy can be useful in some patients. The authors do not use intrathecal baclofen unless there is evidence of accompanying spasticity.
 ...
PMID:Torsion Dystonia in Children. 1279 Nov 96

The authors describe the neurological presentation and CT/MRI findings in 4 patients exposed to overdoses of decoctions of two different Chinese herbs. Case 1, a 15-year-old boy, ingested herba serissae along with the safe-dosage Salvia miltiorrhiza for treating a left renal stone. Sophora subprostrata root (SSR) was primarily used for treating three other diseases: viral B hepatitis in case 2, a 9-year-old boy; infection of the throat and a low fever in case 3, a 11-year-old girl, and a minor facial infection in case 4, a 12-year-old boy. All patients showed complex neurological manifestations primarily including convulsions, mental changes and dystonia syndromes. Their CT and/or MRI revealed abnormal density lesions in the striatum and globus pallidus bilaterally. They excluded the possibility of Wilson's disease in each of the 4 patients and suggested that overdosage of SSR and herba serissae could cause intoxications of the central nervous system, particularly damage to the basal ganglia. Chemically, coumarin (case 1) and matrine and oxymatrine (cases 2-4) in the two medicinal herbs are suggested to be possibly responsible for the morbidity.
 ...
PMID:Movement disorders possibly induced by traditional chinese herbs. 1453 Jun 21

Wilson's disease is a genetic disorder of copper metabolism with a hepatic or neurologic presentation. A hepatic presentation is more common in young children. Neurologic Wilson's disease often manifests as a movement disorder with dystonia, tremor, and dysarthria. Psychiatric or behavioral symptoms can also be a presenting feature of Wilson's disease. We describe an atypical neurologic presentation in a prepubertal child with minimal hepatic involvement; in which transient hemiparesis and encephalopathy dominated her initial neurologic presentation. Brain magnetic resonance imaging revealed extensive cortical and subcortical signal change, in addition to the classical basal ganglia signal abnormality observed in Wilson's disease. She was treated with oral tetrathiomolybdate anticopper therapy, followed by zinc maintenance. Her clinical status and brain imaging improved considerably at 1 year after treatment initiation. Neurologic Wilson's disease may have diverse presentations, and should be considered in children who present with cortical features and signal change on magnetic resonance imaging.
 ...
PMID:Atypical childhood Wilson's disease. 1473 53

The review summarizes the results of a decade of molecular genetic studies of several high-incidence hereditary neurodegenerative diseases, including primary parkinsonism, various forms of hereditary dystonia and ataxia, polyglutamine disorders, hepatolenticular degeneration, essential tremor, etc. Various relevant mutations were studied. The character and frequencies of particular mutations and the corresponding genetic disorders were established for the Russian population. Particular genotypes were associated with various clinical variants of the diseases. Genetic loci were identified for several unique hereditary diseases of the nervous system (X-linked cerebellar hypoplasia, an atypical form of autosomal recessive muscular dystrophy, etc.). Nosological positions of the relevant clinical forms were clarified on the basis of the molecular genetic data. Protocols were developed for direct or indirect DNA diagnostics of the diseases under study to improve medical genetic counseling and prevention of new disease cases in affected families.
 ...
PMID:[Molecular genetic analysis of hereditary neurodegenerative diseases]. 1534 Dec 72

A patient with generalized dystonia due to Wilson's disease obtained marked improvement in response to smoking cannabis.
 ...
PMID:Cannabis sativa and dystonia secondary to Wilson's disease. 1539 41

Wilson's disease is a rare autosomal recessive disease of copper accumulation and copper toxicity, due to mutations in the ATP7B gene, which leads to a failure of copper excretion in the bile. It presents clinically primarily as liver disease, psychiatric disease, neurological disease, or a combination of these. The neurological disease is a movement disorder, with abnormalities of speech, tremor, incoordination and dystonia being common features. Diagnosis of neurologically presenting patients is usually straightforward, with Kayser-Fleischer rings and a urine copper over 100 microg/day almost invariably present. In the treatment of neurologically presenting patients, penicillamine should always be avoided, because of the high risk of permanent, drug-induced, additional neurological deterioration. A new drug we have developed, tetrathiomolybdate, given for 8-16 weeks, in combination with zinc, is our first choice for treating these patients. In the absence of availability of tetrathiomolybdate, zinc or trientine are the next best choices.
 ...
PMID:Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment. 1574 Jan 74

Wilson's disease and Menkes disease are inherited genetic disorders of copper metabolism. Each disease results from the absence or dysfunction of homologous copper-transporting ATPases present in the trans-Golgi network of cells. The Wilson ATPase transports copper into the hepatocyte secretory pathway for incorporation into ceruloplasmin and excretion into the bile. Thus, patients with Wilson's disease of the autosomal recessive trait present with signs and symptoms arising from impaired biliary copper excretion. The Menkes ATPase transports copper across the placenta, gastrointestinal tract, and blood-brain barrier, and the clinical features of this X-linked disease arise from copper deficiency. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same fashion within the cell. The different clinical features of each disease are the results of the tissue specific expression of these ATPases. In Wilson's disease, impaired biliary copper excretion leads to accumulation of this metal in the liver. When the capacity for hepatic storage is exceeded, cell death ensues, with copper release into the plasma resulting in hemolysis and deposition of copper in extrahepatic tissues. Affected patients usually present in the first or second decade of life with chronic hepatitis and cirrhosis or acute liver failure. Copper accumulation in the cornea results in Kayser-Fleischer rings. Neuropsychiatric symptoms are more common in adults and include dystonia, tremor, personality changes, and cognitive impairment as a results of copper accumulation in the basal ganglia and other brain regions. The diagnosis of Wilson's disease is confirmed by decreased serum ceruloplasmin, increased urinary copper, and elevated hepatic copper concentration. A large number of different mutations occur in the genes of patients with Wilson disease. Copper chelation drugs and zinc are effective in most cases. New treatment guidelines now advise physicians to start patients on zinc.
 ...
PMID:[Genetic disorders of copper transport--diagnosis and new treatment for the patients of Wilson's disease]. 1577 21

Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with propofol and midazolam, and two were submitted to neurosurgical procedures (bilateral pallidotomy and bilateral pallidal deep brain stimulation). Triggering factors were identified in three patients as follows: infection, stress-induced and zinc therapy for WD. On follow-up, two patients presented with significant improvement of dystonia, whereas the other three cases the clinical picture ultimately returned to baseline pre-SD condition.
 ...
PMID:Status Dystonicus: study of five cases. 1583 60

Orthotopic liver transplantation has been applied to the treatment of Wilson's disease (WD), living-related liver transplantation (LRLT) has also been indicated for WD with increasing frequency. Between January 2001 and November 2003, 22 LRLTs were performed on patients (19 pediatric, three adults) with WD in liver transplantation center. Two patients were transplanted because of a presentation coexistent with fulminant hepatic failure. Twenty presented with chronic advanced liver disease with (n = 9) or without (n = 11) associated neurologic manifestations. All the recipients had low serum ceruloplasmin levels with a mean value of 12.8 +/- 3.2 mg/dl before transplantation and increased to an average of 26.0 +/- 3.6 mg/dl after LRLT at the latest evaluation. The survival patients with neurologic manifestations such as tremor, dysarthia, dysphagia, dystonia and sialorrhea had improved after LRLT. This suggests that LRLT not only resolves the hepatic but also ameliorates the neurologic consequences of WD.
 ...
PMID:Living-related liver transplantation for Wilson's disease. 1591 Feb 88

The present chapter reviews PET imaging in basal ganglia disorders; Parkinson's disease is used as a model of these disorders because the neurochemical pathobiology of this disease is well known and great advances in the imaging area have been achieved. Other basal ganglia disorders including Tourette's syndrome, dystonia, Huntington's chorea and Wilson's disease are also dealt with. With PET and SPECT techniques, the whole integrative dopaminergic network of neurons can be studied, which plays an important role in differential diagnostics. Furthermore, pharmacological effects of medication can be visualized and the role of stereotaxic neurosurgery can be evaluated. Finally, functional imaging gives clues about the prognosis and rehabilitation aspects of the basal ganglia disorders.
 ...
PMID:PET imaging of the basal ganglia. 1672 12


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>