Linked Life Data

12755039

Source:http://linkedlifedata.com/resource/pubmed/id/12755039

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-5-20
pubmed:abstractText
A 75-year-old Japanese man who had a past history of epilepsy was admitted because of rhythmical myoclonus of upper and lower extremities. His mother and son also had both epilepsy and myoclonus. On neurological examination, he was alert and oriented without dementia. There was no abnormal finding except for the myoclonic jerks appearing in his upper and lower extremities. The myoclonic jerks appeared at rest and worsened during maintaining posture. Results of laboratory tests were all within normal levels. Brain MRIs were normal, and his EEGs showed diffuse fast wave activities without paroxysmal discharges. Surface EMG studies revealed irregular myoclonic discharges at the frequency of 6-20 Hz. Electrophysiologically, he had a giant somatosensory-evoked potentials, an enhanced long-loop reflex(C-reflex) and cortical spikes preceding the myoclonic jerks, suggesting that his myoclonus was of cortical origin. Based on the cortical myoclonus, episodes of epilepsy and familiarity, he was diagnosed as having familial essential myoclonus and epilepsy(FEME). In addition, he periodically became a motionless state characterized by sudden appearance of transient akinesia with generalized stiffness of all of his limbs. The transient motionless state usually appeared following mental stress or sudden sensory stimuli such as loud sound. It persisted for about 10-20 min and ceased spontaneously. Since EEGs recorded during this akinetorigid state showed no paroxysmal discharges, it was considered not to be epileptic. However, after the administration of valproate, his cortical myoclonus improved, and the transient akinetorigid state also disappeared simultaneously. From symptomatic point of views, this generalized motionless state with stiffness of limbs may resemble to freeze behavior of wild animals suddenly confronted with sudden strong stimuli. From symptomatological as well as genetic aspects, FEME has been suggested to be heterogeneous. We propose that this unique akinetorigid attack might be a new clinical phenotype of FEME.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0006-8969
pubmed:author
pubmed:issnType
Print
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
345-8
pubmed:dateRevised
2007-2-22
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
[A case of the familial essential myoclonus and epilepsy presenting behavioral arrest].
pubmed:affiliation
Department of Neurology, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8510, Japan.
pubmed:publicationType
Journal Article, English Abstract, Case Reports