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)

Dystonic movements in a mutation of the Syrian golden hamster, named dtsz, have several features in common with clinically observed paroxysmal dystonic choreoathetosis. In this study the CNS of the mutant hamsters and age-matched nondystonic controls was examined for morphological alterations at the age of 30 days, i.e., when the severity of the dystonic syndrome is fully developed. Particular interest was directed to those brain regions (caudate nucleus, putamen, globus pallidus, ventrolateral thalamus) that are presumably involved in symptomatic dystonia of humans, as well as to regions (e.g., spinal cord, dorsal root ganglia, nucleus ruber) for which neuropathologically detectable lesions have been found previously in the dystonia musculorum mouse. The neuropathological investigation was carried out on routine paraffin histology on step sections of the whole brain and spinal cord. In addition, a silver impregnation method was used for detection of pre- and/or postsynaptic degeneration. Light microscopic examination, including morphometry, of the nervous tissue failed to reveal any morphological or morphometric differences between control and dystonic hamsters. The only abnormality that was found in several control and dystonic hamsters was hydrocephalus. Breeding studies using magnetic resonance imaging for detection of hydrocephalus showed that hydrocephalus was hereditary but not related to dystonia. Virus infections as a cause of hydrocephalus or dystonia could be excluded by serological analysis with determinations of various virus antibodies in hamster sera. The lack of neuropathological alterations related to dystonic movements in the present study in dtsz hamsters is comparable to most cases of human hereditary or idiopathic dystonia, which show dystonic movements in the absence of morphological alterations.
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PMID:Neuropathological studies in a mutant hamster model of paroxysmal dystonia. 225 52

A prospective long-term semiquantitative evaluation of the results of ventral intermediate-posterior ventral oral nucleus thalamotomy on the different aspects of dystonia was made in 29 patients with secondary disease, 12 with nonfamilial, eight with (non-Jewish) familial, and seven with atypical DMD. The effect of disease progression, even in secondary patients, on surgical outcome was reviewed. Thalamotomy resulted in a long-term improvement in limb function of more than 25% to 50% in 23% of the patients, over 50% in 34% of patients, but midline features responded poorly. Manual dexterity was little changed in secondary cases because of underlying paralysis but improved 38% in cases of DMD. Involvement of neck and trunk, of three to four limbs, and progressive disease prognosticated for a poorer result, but phasic and tonic, familial, and nonfamilial dystonia respond equally well and age at surgery made no difference. Significant complications in 29 secondary cases included one death 31 days postoperative, one case of worsened hemiparesis, two cases of worsened dysarthria, two cases of worsened locomotion, one case of hydrocephalus requiring shunting, and one case of need for permanent tracheotomy. In 27 cases of typical and atypical DMD, there were two instances of hemiparesis, two of significant speech deterioration, three of hand ataxia, one of postoperative seizures, and one of hydrocephalus requiring shunting for an overall significant morbidity rate of 21%. The limiting factor in treating secondary dystonia is the underlying spastic paralysis but that in DMD is the relentless postoperative progression. The overall results of this study are remarkably similar to those of other published series: a quarter of the patients improved by 25% to 50%, a quarter to a third by more than 50%. The analysis of effect on specific features of the disease may be useful in the future for predicting outcome in a particular patient.
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PMID:Thalamotomy in generalized dystonia. 340 May 14

The development of nine infants with enlarged subarachnoid spaces identified by specific CT-scan criteria was prospectively followed to two to three years of age. Infants with intracranial hemorrhage, CNS anomaly, microcephaly or other factors of potentially major negative impact on their development were excluded. All study infants had normal or only minimally increased ventricular size and none developed hydrocephalus. Head circumference was greater than or equal to 90th percentile in all cases, and six fathers also had a head circumference greater than or equal to 90th percentile. Six infants had gross motor delay and mild hypotonia in the first year. One, born at 30 weeks gestational age, had transient dystonia. At follow-up all the infants were developing normally, apart from four with minor concerns. Infants with macrocephaly or rapid head-growth, CT-scan findings of enlarged subarachnoid spaces and normal to minimally increased ventricular size, and who have a parent with macrocephaly, have a good developmental prognosis and a characteristic pattern of neuromotor development in the first year.
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PMID:Developmental prognosis for infants with benign enlargement of the subarachnoid spaces. 358 87

3-methoxy-4-hydroxyphenylglycol (MHPG), the primary brain metabolite of norepinephrine (NE), was measured in ventricular fluid from 51 patients with dystonia, other movement disorders, or hydrocephalus. The dystonic patients were divided into three categories: childhood-onset form with early limb dystonia and rapid progression to generalized symptoms, more localized and benign adult-onset dystonia, and symptomatic dystonia. Patients with the childhood form had significantly lower ventricular fluid MHPG levels (8.7 +/- 0.6 ng per milliliter) than other dystonic patients (11.4 +/- 1 ng per milliliter), age-matched controls with neurologic disease (11.7 +/- 1.1 ng per milliliter), or other movement disorders (11.8 +/- 0.7 ng per milliliter). Decreased ventricular fluid MHPG levels suggest a possible abnormality of brain NE function in childhood dystonia.
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PMID:Decreased ventricular fluid norepinephrine metabolite in childhood-onset dystonia. 668 83

Torticollis is a clinical sign of either CNS or musculoskeletal dysfunction. Thorough clinical and neuroradiographic evaluation is indicated for determination of the source, course, and exact nature of the deformity before a considered approach to surgical management is undertaken. Torticollis of neurogenic origin is managed by surgical decompression of the brainstem or cervical spinal cord when indicated, as in the presence of hydrocephalus, the Arnold-Chiari malformation, syringobulbia , syringomyelia, colloid cyst of the third ventricle, or neoplasms in the third ventricle, posterior fossa, or cervicomedullary junction. In progressive and medically refractory cases of spasmodic torticollis, neuroablative procedures, neuroaugmentive procedures, selective muscle excisions, and radical cervical muscle excisions have been used to control the dystonia. Torticollis of musculoskeletal origin is often secondary to or associated with trauma, although congenital craniocervical anomalies may be a predisposing factor. The primary goals of surgery for craniovertebral or upper cervical spine deformity are reduction of the malalignment; decompression of the brainstem, cervical spinal cord, and/or nerve roots if necessary; and stabilization of the upper cervical spine.
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PMID:Surgical management of torticollis. 671 89

Parkinsonism is an uncommon movement disorder in childhood. Six unusual cases of acquired parkinsonism in hospitalized children are described. Clinical manifestations included an akinetic-rigid syndrome with and without tremor, the combination of parkinsonism and dystonia, and a parkinsonism-plus syndrome. Altered mental status, mutism, dysphagia, and sialorrhea were frequent associations. Etiologies included hypoxic-ischemic encephalopathy; haloperidol treatment with and without neuroleptic malignant syndrome; toxicity of cytosine arabinoside, cyclophosphamide, amphotericin B, and methotrexate; St. Louis encephalitis and other encephalitides; and a pineal tumor with hydrocephalus. Cranial magnetic resonance imaging results ranged from normal to profound cerebral and cerebellar atrophy with chemotherapeutic toxicity. The illnesses usually were severe enough to require pharmacotherapy. Incorrect diagnoses of depression or catatonia delayed treatment or aggravated the problem. Acute treatment included amantadine, levodopa/carbidopa with or without selegiline, diphenhydramine, or benztropine. The concentration of CSF homovanillic acid was normal in a neuroleptic-associated patient, but the level was low in an encephalitic patient. All patients demonstrated dramatic improvement, including two who were not treated; some had complete resolution of symptoms and none required continued antiparkinsonian drugs despite poor scores on the Unified Parkinson's Disease Rating Scale and the Modified Hoehn and Yahr Rating Scales. The causes of parkinsonism described are more common in a general pediatric hospital than the parkinsonism associated with the popularized Segawa syndrome.
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PMID:Clinical spectrum of secondary parkinsonism in childhood: a reversible disorder. 802 61

Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia. The initial diagnosis was of hydrocephalus and bilateral temporal cerebrospinal fluid collections. Following ventriculoperitoneal shunting, the patients showed only modest neurological improvement. Metabolic investigations performed later in the course of the disease disclosed increased levels of glutaric acid in the urine and decreased levels of serum carnitine, which were confirmatory of glutaric aciduria type 1. The association of macrocephaly, dystonia, and bilateral temporal arachnoid cysts, shown either by computed tomography or magnetic resonance imaging, seems to be diagnostic of glutaric aciduria type 1. The authors report these two cases as they think they might be of interest to neurosurgeons.
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PMID:Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1. 804 20

Hemispherectomy is required in most cases of hemimegalencephaly in order to control epilepsy refractory to medical treatment. Although there is a general agreement on the effectiveness of the procedure in controlling the seizure disorder, the choice of the surgical technique is still a subject of debate. In particular, anatomical hemispherectomy is blamed to be associated with a higher incidence of surgical complications, namely hydrocephalus and hemosiderosis, than other less ablative operations such as functional hemispherectomies. A series of 15 children with hemimegalencephaly, who had undergone anatomical hemispherectomy (11 cases), functional hemispherectomy (2 cases), and hemidecortication (2 cases) at the Pediatric Neurosurgery Section, Catholic University Medical School, Rome, is reported. Twelve of these patients presented with one or more complications in their postoperative course. Temporary complications, which resolved spontaneously or following medical therapy, included fever, wound breakdown, worsening of preoperative motor deficit, unilateral third cranial nerve deficit, dystonia, and anemia. In 8 patients, postoperative complications led to a second surgical procedure. A CSF shunt was necessary in 5 children, to control a secondary hydrocephalus. Two subjects underwent a toilette of the residual cavity because of persisting chemical abnormalities in CSF parameters. In a child a cranioplasty procedure was necessary as a consequence of an infection of the hemicranial bone flap. There was no apparent correlation between the rate and the type of complications with a specific surgical procedure. On the other hand, the age factor appeared to play an important role in the occurrence of secondary hydrocephalus, as all 5 children with this complication were less than 9 months old at the time of the hemispherectomy. Surgical mortality was nil in this series.
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PMID:Hemimegalencephaly and intractable epilepsy: complications of hemispherectomy and their correlations with the surgical technique. A report on 15 cases. 1112 37

A 3 year review of neurologic admissions into the adult medical wards at the UCH, Ibadan, Nigeria between January 1998 and December 2000 is presented. The study design involved the scrutiny of the records of all the neurological admissions, male and female to the medical ward. The identified cases were then classified and only cases confirmed as neurological were further analysed. Stroke, predominantly non-hemorrhagic accounted for 50.4% of cases for the period of study. Stroke is therefore the most common cause of adult neurologic admissions on medical wards of UCH. Central nervous system infections, comprising mainly of tetanus and meningitis accounted for 14.2% (111) and 12.4% (97) of case respectively. The myelopathies were the cause of neurologic admissions in 8.1% (63) of cases followed by seizure disorders. Headache was the reason for admission in 0.9% (7) of cases. Parkinsons disease, hypertensive encephalopathy, Guillian Barne syndrome, seasonal ataxic neuropathy, cavernous sinus thrombophlebitis, normal pressure hydrocephalus were rarely the cause of admission. Similarly, dystonia, and cerebral malaria recorded 0.13% (1) of cases each. A case is made for the establishment of regional stroke units in Nigeria.
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PMID:A 3-year review of neurologic admissions in University College Hospital Ibadan, Nigeria. 1452 26

Severe injury to the cerebellum as a complication of extreme prematurity with extremely low birthweight was recently described in 13 children with the clinical diagnosis of cerebral palsy. We report another 10 cases of this syndrome. The clinical features include striking motor impairment and variable degrees of ataxia and athetosis or dystonia, which represent a distinct clinical type of cerebral palsy. Most are severely damaged, with cognitive, language, and motor delays. All are microcephalic, except one with hydrocephalus. Neuroimaging studies demonstrate the absence of major portions of the cerebellum involving both the inferior vermis and hemispheres. Most also have injury of a less severe nature in the cerebrum. This report indicates that this is not an uncommon outcome of extremely low birthweight infants, and we hope to encourage further investigations into the relative frequency and likely etiologies of the condition.
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PMID:Cerebellar injury in the extremely premature infant: newly recognized but relatively common outcome. 1579 81


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