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)

Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.
 ...
PMID:The Rett syndrome in males. 234 22

Three cases of movement disorders secondary to hypoxic-ischemic encephalopathy are reported. Despite similarities among the clinical events, the neurological syndromes produced were dissimilar. Cerebral hypoxia-ischemia typically produces lesions of the globus pallidus that may result in an akinetic rigid syndrome. Due to its unique blood supply, vascular insufficiency is found to be a major factor. Lesions in the putamen also occur, and these tend to be associated with dystonia. Recent evidence supports a specific neuronal sensitivity in the striatum, possibly due to afferent excitatory amino acid connections. These two components and changes in the levels of neurotransmitters during hypoxia-ischemia may interact to produce varied clinical outcomes. These factors must also be considered when planning therapeutic interventions.
 ...
PMID:Hypoxic-ischemic damage of the basal ganglia. Case reports and a review of the literature. 238 37

Delayed neurological deterioration following anoxia is known to result from carbon monoxide exposure. However, it may also occur with anoxia of other types as well. The present report describes a case of delayed postanoxic encephalopathy with bilateral striatal lesions demonstrated by magnetic resonance imaging. A 27-year-old man exhibited anoxic anoxia caused by upper airway obstruction following general anesthesia for shoulder fracture surgery. Initially he was delirious and markedly excited for one day and became apparently normal for the following three days. Then he relapsed into delayed neurological deterioration with speech and gait disturbance, clumsiness of hand, pyramidal signs and metamorphopsia. Thereafter, he became bed-ridden and fell into semicomatose state with marked motor restlessness, involuntary movement of the tongue and decorticate posture. Twenty-five days later he had a second recovery period after hyperbaric oxygenation that lead to the sequelae with speech and motor disturbances and mild mental changes. I examined the present case as an expert witness in a civil suit eleven years after initial anoxia. The patient showed slight intellectual impairment and personality change. Impairment in figure-ground differentiation and disorders of spatial thought were also observed. Neurological examination revealed anisocoria, dysarthria with acquired stuttering, disturbances of fractionated movement of fingers, writer's cramp and Babinski's sign bilaterally. Postural dystonia of both hands and fingers, rigidity and spasticity of all extremities were also present. Magnetic resonance imaging (MRI) showed bilateral lesions of the corpus striatum, especially of the putamen. Some portion of the caudate nucleus was also involved. Cerebral cortices and white matter were slightly atrophic. From the above clinical course and neurological findings, we diagnosed the present case as delayed postanoxic encephalopathy. Ginsberg (1979) noted that in cases of anoxia not related to carbon monoxide, diffuse demyelinative changes of cerebral hemispheral white matter tended to be associated with relapsing clinical course, and gray matter injury was only seen in a few cases. MRI findings in the present case suggest that main site of the lesion to be in gray matter of the corpus striatum. In this respect, the present case is considered to be noteworthy.
 ...
PMID:[A case of delayed postanoxic encephalopathy with bilateral lesions of the corpus striatum]. 281 6

We report here an autopsy case, an 8-year-old boy diagnosed as having infantile striatal necrosis, characterized by a preceding febrile illness followed by acute encephalopathy with abrupt obtundation, seizures and dystonia, with remarkable improvement of the disturbed consciousness and intelligence after TRH-T therapy. These clinical symptoms were linked with bilateral necrosis of the striata on CT scanning. The presented case belonged to a newly described subgroup of the heredogenous disorders that produce necrosis of the putamina in children.
 ...
PMID:A case report of infantile striatal necrosis with an acute onset. 310 77

Three unrelated patients, aged 4, 18, and 47 years, had generalized dystonia associated with bilateral striatal hypodensities on computed tomography. Mitochondrial encephalopathy was considered to be the most likely diagnosis, but this could not be proved. These patients confirm previous reports linking acquired generalized dystonia with bilateral putaminal lesions and they highlight the problem in differential diagnosis of this clinicoradiologic syndrome.
 ...
PMID:Progressive dystonia with bilateral putaminal hypodensities. 331 12

The authors have examined 214 patients with early clinical forms of cerebral circulation insufficiency. It has been established that discirculatory encephalopathy (DE) may be formed in two ways. One way is angiogenic and it leads to DE through a stage of initial manifestations of cerebral circulation insufficiency (IMCCI), the other way is related to the neurovascular nature of the disease (vegetovascular dystonia) and may lead to DE, bypassing the stage of IMCCI. It is concluded that therapy with vasoactive drugs is the basic therapy for patients with an angiogenic origin of the disease whereas in patients with a neurovascular genesis of the disease the basic approach is the administration of metabolism-correcting drugs.
 ...
PMID:[The genesis of early clinical forms of cerebral circulatory failure and the effectiveness of different courses of therapeutic measures]. 336 93

Cerebral palsy (CP) was commonly considered as a static encephalopathy with various clinical forms. Among them the dystonic form may occur alone (15%) or combined with other manifestations (e.g. spasticity). In a country-wide survey of dystonia in Israel, we discovered 7 cases in whom dystonia and/or spastic paraparesis appeared or worsened on the background of CP. The clinical deterioration occurred between 14 and 40 years of age and resulted in a bedridden state in 2 of the 7 patients. The occurrence of extrapyramidal features and/or progressive spastic paraparesis in patients with preexisting CP was not clearly recognized in the literature, although lately some reports suggested 'changing motor patterns' in patients with CP. It is hypothesized that in some cases the pathological substrate, occurring at the perinatal period, may slowly progress in adult life. The fact that the majority of the dystonic subjects were Ashkenazi Jews is reminiscent of the high gene frequency of idiopathic torsion dystonia in this group, and suggests that the genetic tendency may be triggered off by perinatal factors.
 ...
PMID:Progressive dystonia and paraparesis in cerebral palsy. 394 89

Severe, involuntary, forceful closure of both eyelids, along with dystonia and rigidity, followed hypoxic encephalopathy in a young man whose computed tomographic scan showed symmetric infarcts of the corpus striatum. Symptomatic blepharospasm can result from bilateral damage to the basal ganglia.
 ...
PMID:Blepharospasm with bilateral basal ganglia infarction. 406 20

Arthrinium fungi were cultivated from the samples of mildewed sugarcane which caused acute encephalopathy and delayed dystonia in children. The Arthrinium cultures (AC) contained 5 mg/ml 3-nitropropionic acid (3-NPA) after being inactivated and concentrated. A neuropathological study was carried out in rats intoxicated with 3-NPA and AC, respectively. Consistent bilateral striatal necrosis was found in rats with both poisonings, and the severity was well correlated with persistent recumbency which was a clinical indicator of the development of morphological brain lesions. A reproducible animal model of striatal damage has been produced in rats by IP injections of 10 mg/kg 3-NPA, 6 times a day, with an interval of 1.5 h for 3-5 days. The clinical and neuropathological manifestations in rats dosed with AC were nearly the same as those dosed with 3-NPA. The striatal lesions induced by 3-NPA and AC in poisoned rats were in accordance with the bilateral lenticular hypodensity found by CT scanning in patients of mildewed sugarcane poisoning with delayed dystonia. This neuropathological evidence supports previous epidemiological and mycological findings which indicate that 3-NPA is the possible pathogen of acute mildewed sugarcane poisoning.
 ...
PMID:Consistent striatal damage in rats induced by 3-nitropropionic acid and cultures of arthrinium fungus. 756 87

Two siblings with atypical methylmalonic aciduria and progressive encephalopathy are reported. Initial symptoms were failure to thrive and growth retardation from the first year of life, progressing to severe mental retardation, microcephaly, dystonia, spasticity and cataracts. The amount of methylmalonic acid excreted in the urine was substantially lower than in classical methylmalonic acidemia and was not reduced by vitamin B12 therapy. The activity of methylmalonyl-CoA mutase and the overall assay of propionic acid metabolism in cultured fibroblasts were normal. The primary defect in this probably new autosomal recessive disorder associated with methylmalonic aciduria is currently not known.
 ...
PMID:Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome? 758 37


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