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)

WE REVIEW THE phenomenology, pathophysiology, pathological anatomy, and therapy of posttraumatic movement disorders with special emphasis on neurosurgical treatment options. We also explore possible links between craniocerebral trauma and parkinsonism. The cause-effect relationship between head injury and subsequent movement disorder is not fully appreciated. This may be related partially to the delayed appearance of the movement disorder. Movement disorders after severe head injury have been reported in 13 to 66% of patients. Although movement disorders after mild or moderate head injury are frequently transient and, in general, do not result in additional disability, kinetic tremors and dystonia may be a source of marked disability in survivors of severe head injury. Functional stereotactic surgery provides long-term symptomatic and functional benefits in the majority of patients. Thalamic radiofrequency lesioning, although beneficial in some patients, frequently is associated with side effects such as increased dysarthria or gait disturbance, particularly in patients with kinetic tremor secondary to diffuse axonal injury. Deep brain stimulation is used increasingly as an option in such patients. It remains unclear whether pallidal or thalamic targets are more beneficial for treatment of posttraumatic dystonia. Trauma to the central nervous system is an important causative factor in a variety of movement disorders. The mediation of the effects of trauma and the pathophysiology of the development of posttraumatic movement disorders require further study. Functional stereotactic surgery should be considered in patients with disabling movement disorders refractory to medical treatment.
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PMID:Head injury and posttraumatic movement disorders. 1195 Mar 95

OBJECTIVE: This article aims at reviewing one of the most important problems faced by pediatricians in the field of child neurology. The paroxystic non-epileptic events are also a frequent reason for pediatric neurology consultations and admission for diagnostic videoelectroencephalogram monitoring. SOURCES: Literature review on the subject was perform on Medline, data were also collected from the main Pediatric Neurology Textbooks, which were found to be an important and unique source of information on the subject. SUMMARY OF THE FINDINGS: Many of the entities discussed in this paper are very common in the pediatric population such as syncope, breath-holding spells and the movement disorders associated with gastroesophageal reflux. Other syndromes are less frequent such as the paroxysmal dystonias and the Segawa Syndrome (dystonia with diurnal variation). CONCLUSIONS: The basic knowledge of these syndromes is very important since it may avoid unnecessary procedures and the wrongful diagnosis of epilepsy. Patients who are mistakenly diagnosed as epileptics are exposed to anticonvulsant medications, which are probably not going to be effective and may expose them to the risk of side effects.
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PMID:[Paroxysmal non-epileptic events] 1467 71

SOLUTIONS TO THE MAJOR RIDDLES IN MOVEMENT DISORDERS ARE APPEARING AT A BREATHTAKING PACE: 1) loss-of-function mutations in PRRT2, which encodes a cell surface protein expressed in neurons, have been found in many patients with paroxysmal kinesigenic dyskinesias; 2) mutations in CIZ1, which encodes a protein involved in cell-cycle control at the G1-S checkpoint, have been identified in a small percentage of patients with cervical dystonia; and 3) finally, after many years of genetics and identification of more than 25 disease-associated genes, cellular studies related to the pathobiology of hereditary spastic paraplegia are converging on defects in modeling the endoplasmic reticulum and membrane trafficking. On the treatment front, the distinctive syndromes of faciobrachial dystonic seizures with anti-LRI1 antibodies and anti-N-methyl-d-aspartic acid encephalitis with orobuccolingual dyskinesias are becoming increasingly recognized by clinicians as imminently treatable conditions. Also on the treatment front, the first phase I trial of MRI-guided high-intensity focused ultrasound for essential tremor has been completed and intraoperative MRI is currently being used to place electrodes in the brains of patients with medically intractable dystonia. Definitive etiologies and efficacious treatments for non-Parkinson disease movement disorders are no longer wishful thinking.
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PMID:Non-Parkinson movement disorders: Five new things. 2363 81