Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake-sleep cycle, dysautonomia and somatomotor manifestations (myoclonus, ataxia, dysarthria, spasticity). PET studies disclose severe thalamic and additionally cortical hypometabolism. Neuropathology shows marked neuronal loss and gliosis in the thalamus, especially the medio-dorsal and anterior-ventral nuclei, olivary hypertrophy and some spongiosis of the cerebral cortex. Detailed analysis of 14 cases from 5 unrelated families showed that patients ran either a short (9.1 +/- 1.1 months) or a prolonged (30.8 +/- 21.3 months) clinical course according to whether they were homozygote met/met or heterozygote met/val at codon 129. Moreover, homozygotes had more prominent oneiric episodes, insomnia and dysautonomia at onset, whereas heterozygotes showed ataxia and dysarthria at onset, earlier sphincter loss and epileptic Grand Mal seizures; they also displayed more extensive cortical involvement on PET and at postmortem examination. Our data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein-gene.
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PMID:Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene. 966 7

Spasticity is a state of sustained pathological increase in the tension of a muscle. Treatment for spasticity has been revolutionized by the introduction of intrathecal baclofen (ITB) continuous infusion. ITB is associated with a 30% rate of complications mostly as a result of catheter problems that lead to acute ITB withdrawal. We describe a 10-year-old girl with spastic quadriplegia caused by cerebral palsy successfully treated with ITB who developed dystonic-dyskinetic status following acute ITB withdrawal because of a catheter kink resolved by external manipulation. The patient presented with a subacute onset of generalized malaise characterized by anorexia, difficulty in speaking and swallowing, insomnia, worsening of hypertonus with a left predominance, and late appearance of dystonic-dyskinetic movements. Soon after hospitalization the child had a generalized tonic-clonic seizure followed by unresponsiveness. One hour later she developed multiple muscle contractions with dystonic posturing and continuous chaotic movements. She also had pyrexia, tachycardia, and hypertension. A video/EEG recording showed the nonepileptic nature of the symptoms and revealed dystonic-dyskinetic status. We report the clinical features and the video recording of the status. The prompt recognition of this life-threatening complication is essential, as rapid treatment may reduce the increased risk of death. Misdiagnosis is possible, and video/EEG monitoring is useful to this end. Although differing among patients, all symptoms are related to overexcitability of the extrapyramidal and autonomic systems.
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PMID:Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal. 2160 4

MECP2 duplication syndrome (MECP2 DS) is an X-linked disorder characterized by early-onset hypotonia, poor speech development, recurrent respiratory infections, epilepsy and progressive spasticity. Epilepsy occurs in more than 50% of the affected patients. Generalized tonic-clonic seizures (GTCS) are the most common seizure-type described but atonic seizures, absences and myoclonic seizures have also been reported. Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated. Here we report on two male siblings carrying a maternally-inherited MECP2 duplication. Patients underwent several EEG recordings and long-lasting video-EEG monitoring. The most represented seizure types were myoclonic and atonic seizures. GTCS were rarely observed. In patients, we found a slowing of the background activity with multifocal paroxysmal activity, prominent on the frontal areas. In conclusion, our observations seem to suggest that MECP2 syndrome seem to have a peculiar epileptic pattern mainly characterized by the occurrence of myoclonic seizures, the recognition of which is important in order to undertake an appropriate treatment.
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PMID:Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study. 3064 17