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 vast majority of the patients with dystonia have obscure causes. We present 2 cases of neuronal heterotopia in the basal ganglia, who developed contralateral hemi-dystonia and other nervous system abnormalities in early childhood. The first case was a premature female infant who developed involuntary twist movements of the left arm, persistent plantar flexion and eversion of the left foot at age of 7 months. All of the symptoms disappeared during sleep. Delayed motor milestones were also noted. She was still not able to stand or sit steadily at the age of 17 months. The CT scan of brain revealed a nodular lesion at the margin of right lateral ventricle, which was not enhanced by contrast medium suggesting neuronal heterotopia. Besides, smooth cortical surface, poorly recognizable cortical sulci, agenesis of corpus callosum and dilatation of lateral ventricles were also noted. The second case was a 21-year-old man with involuntary movements of left side body and limbs since his early childhood. He had persistent twist and intermittent jerky movements of the left limbs and torticollis. The patient also showed dysarthria and mild mental retardation. The CT scan of brain showed a heterotopic nodule at the margin of right lateral ventricle. The 2 cases reported here suggest that the early onset of hemi-dystonia with multiple nervous system disorders and the abnormal neuronal migration in human embryonic stage are related.
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PMID:[Neuronal heterotopia with hemidystonia]. 279 66

Barrel rotation is a unique motor response observed in rats in which, following an intracerebral injection, the animal develops a twist about the long axis and rolls laterally repeatedly. The response was first described following injection of somatostatin. We have previously shown that 'experimental dystonia' in rats induced by intraventricular chlorpromazine methiodide (CPZMI) is identical to barrel rotation, and that it is due to an antimuscarinic effect. The purpose of the present study was to investigate the neuroanatomical basis of CPZMI-induced rotation. We injected CPZMI in 3 microliters into right lateral and IVth ventricle and found that IVth ventricle injections were significantly more likely to induce rotation. Nuclear groups adjacent to the IVth ventricle, which are rich in muscarinic cholinergic receptors, include locus coeruleus and vestibular nuclear complex (VNC). We found that only VNC injections induced rotation. Only certain control compounds injected into VNC elicited the response. We conclude that barrel rotation has a specific neuroanatomical basis, involving central vestibular mechanisms, and that it has a specific pharmacologic basis.
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PMID:Chlorpromazine methiodide acts at the vestibular nuclear complex to induce barrel rotation in the rat. 666 22

Torticollis can be either congenital or acquired. Acquired torticollis is often the manifestation of an underlying central nervous system disorder. Acute painless torticollis should always raise suspicion of a posterior fossa tumor. Acute disseminated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system involving the subcortical white matter, and to a lesser extent, the gray matter. The illness typically has a monophasic course characterized by a variable combination of fever, headache, meningismus, seizures, spasticity, cranial nerve palsies, ataxia, and psychosis. The course, although often clinically severe, is generally benign with most children making a full recovery. A toddler presenting with subacute painless torticollis as the only manifestation of acute disseminated encephalomyelitis is described. The authors believe the neck twist in this child represented a form of dystonia because of basal ganglia involvement. Torticollis has not been reported as a presenting or only sign of disseminated encephalomyelitis.
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PMID:Torticollis as the only manifestation of acute disseminated encephalomyelitis. 2060 59