Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients with palatal myoclonus were examined electromyographically. Surface EMG was recorded simultaneously from several myoclonic muscles and the correlation between their rhythmic discharges was shown. The possible existence of a remote influence of palatal myoclonus was tested by recording soleus and anterior tibial H-reflexes and seeking a correlation of their amplitudes with the rhythm of palatal myoclonus. Two cases, both with additional severe spasticity in the legs, showed rhythmic variation of the soleus H-reflex amplitude corresponding with that of their palatal myoclonus. This suggests that the neural mechanism generating the visible myoclonus has much more extensive effects.
J Neurol Neurosurg Psychiatry 1984 Sep
PMID:Palatal myoclonus--its remote influence. 648 85

In guinea pig brain stem preparations [3H]5-hydroxytryptamine (5HT) bound specifically to both high and low affinity sites, but specific [3H]spiperone binding was low and could not be consistently detected. This indicates a prevalence of 5HT-1 type receptors in this tissue. High affinity-specific [3H]5HT binding was more potently displaced by indole-containing 5HT agonists than by piperazine-containing 5HT agonists. This agreed with the observation that indole-containing, but not piperazine-containing compounds induced dose-dependent myoclonus in guinea pigs which originates from brain stem. The capacity of indoleamine antagonists to displace [3H]5HT-specific binding from guinea pig brain stem was similar to their reported potency in displacing [3H]5HT from 5HT-1 receptors. The [3H]5HT-labelled binding site in guinea pig brain stem is a 5HT-1 receptor and appears to be responsible for the induction of indoleamine-dependent myoclonus.
Eur J Pharmacol 1984 Sep 17
PMID:Correlation of [3H]5-hydroxytryptamine (5HT) binding to brain stem preparations and the production and prevention of myoclonus in guinea pig by 5HT agonists and antagonists. 649 22

The patient we describe had cerebellar ataxia, slow eye movements, myoclonus, facial dystonia and signs of spinal cord and peripheral nerve involvement. The patient's mother, brother and sister died from the same disease. Neuropathological examination revealed lesions of olivo-ponto-cerebellar atrophy (OPCA) associated with spinal cord degenerative changes characteristic of Menzel's hereditary ataxia. Although myoclonus was similar to Hunt's dyssynergia cerebellaris myonica, pathological findings did not show significant involvement of the dentate nucleus or superior cerebellar peduncle and physiopathological hypotheses for myoclonus are discussed. Slow eye movement is emphasized in the propositus and we suggest that it could be specific of one type of OPCA. Its pathological significance is discussed, but a primitive and unique involvement of the paramedian pontine reticular formation is unlikely.
J Neurol Sci 1983 Sep
PMID:Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. 663 53

A further patient with a presumed primary deficiency of sialidase N-acetylneuraminic acid hydrolase EC 3.2.1.18) is described. Clinically the patient falls into the sialidosis type 2 category of the recent classification of Lowden & O'Brien (1979), i.e. he manifests coarse facies, mental retardation and skeletal changes of dysostosis multiplex as well as myoclonus and a cherry-red spot at the macula. Sialidase activity in fibroblasts was 4% of control values using a methylumbelliferone substrate. The father of the patient was found to have 50% activity. Abnormal amounts of sialyloligosaccharides were found in the urine. The electrophoretic mobility of known glycosylated enzymes and proteins was found to be altered (more anodal than usual), but could be corrected by incubation of the cell extracts with bacterial neuraminidase. The relationship of the present patient to the Lowden & O'Brien classification is discussed.
Clin Genet 1980 Sep
PMID:Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. 677 97

Two patients with objective tinnitus due to continuous tubal opening are presented. The objective tubal tinnitus was found to be due to clonic spasm of the muscles of the pharynx and eustachian tube and it can be easily differentiated by means of sonotubometry alone. The acoustic events occurring during the clicking sound were analyzed and were similar to the swallowing sound. Movements of the tympanic membrane were not seen in any of these ears. However, the close relationship of the tensor tympani and tensor palati muscles could explain the movement of the tympanic membrane in some cases. I believe that stapedius muscle spasm or a patulous tube as such does not cause the clicking sound, but it can occur in association with palatal myoclonus. The objective tubal tinnitus is heard as a result of the walls of the eustachian tube snapping together. Transection of the tensor veli palatini muscle tendon may be a useful method of treatment if the patient experiences objective tinnitus which is very distressing.
J Laryngol Otol 1983 Sep
PMID:Objective tubal tinnitus: a report of two cases. 688 47

We describe two patients with mitochondrial myopathies who presented with complex multisystem diseases predominantly affecting the central nervous system. In both cases the disease ran a fluctuating clinical course, eventually leading to profound impairment of intellectual function. In Case 1 dementia was associated with optic atrophy, absent pupillary responses, impaired eye movements and generalized dystonic rigidity without evidence of weakness or loss of muscle bulk. In Case 2 myoclonus preceded the onset of ataxia, generalized weakness and mental confusion by several years. Biochemical studies on isolated muscle mitochondria revealed defects in the mitochondrial respiratory chain which were located at NADH-CoQ reductase in Case 1, and at cytochrome b in Case 2. This study illustrates the potential value of muscle biopsy in the diagnosis of unusual and otherwise unexplained cerebral syndromes in man, even in the absence of muscle weakness.
Brain 1982 Sep
PMID:Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain. 710 66

We performed screening polysomnography on 86 inpatients with affective disorders and found that 13 (15.1 per cent) had sleep apnea and one had nocturnal myoclonus. The apnea tended to be extremely mild, with an average of 27.8 episodes per patient and with a mean duration of 15.0 seconds. No clinically significant cardiac arrhythmia accompanied the apnea. The apnea was predominantly obstructive or mixed, not central. Only four patients (4.7 per cent) had apnea indices greater than five, and even here the total apnea was considered mild. Much of the apnea (68.3 per cent) occurred during rapid eye movement sleep. While there was no association of apnea with gender or with type of sleep-wake complaint, a significant relationship with age emerged. On the basis of these data, we suggest that routine polysomnographic screening for sleep apnea and nocturnal myoclonus in affective disorders is not indicated. On occasion, however, both an affective disorder and a sleep-apnea syndrome co-exist in the same patient. In such cases, the sleep-wake complaint is usually very prominent and/or long-standing in relation to other psychopathology and requires appropriate polysomnographic evaluation.
J Nerv Ment Dis 1982 Sep
PMID:Prevalence of sleep apnea and nocturnal myoclonus in major affective disorders: clinical and polysomnographic findings. 710 5

Of 15 consecutive patients with secondary impotence 7 (46 per cent) had varied degrees of abnormal nocturnal penile tumescence and 1 or more of the following sleep-associated events: frequent apnea and hypoventilation, myoclonus and a slow but remarkably stable heart rate even during episodes of respiratory impairment. All nocturnal penile tumescence measurements, except circumference change at the glans, were significantly lower than in patients with psychogenic impotence or normal subjects. These findings, not described previously, suggest probable central nervous system etiology of organic impotence in some patients. Skilled nocturnal penile tumescence assessment in conjunction with a comprehensive polysomnographic study is an essential diagnostic procedure in the evaluation of the impotent patient.
J Urol 1981 Sep
PMID:Significance of impaired penile tumescence and associated polysomnographic abnormalities in the impotent patient. 727 96

A major problem with studying the prevalence of sleep disorders is the high cost. We tested a portable home recording system which can decrease the cost of screening sleep recordings. Twenty-four senior volunteers and 12 patients referred to our sleep disorders clinic were studied for two nights. On one night, recordings were done in the laboratory with a traditional polysomnogram and the portable home recorder. On another night, portable home recorders were used in the subjects' homes. Of 36 subjects, 42% had sleep apnea and 39% had nocturnal myoclonus. Intermethod correlations were highly significant for sleep apnea index, nocturnal myoclonus index, total sleep period (TSP), total sleep time (TST), and wake time after sleep onset (WASO). The portable home recorder detected sleep apnea on 100% of nights during which sleep apnea was diagnosed by polysomnogram. The labor-saving and cost-saving benefits of home recordings as well as the increased comfort, privacy, and convenience will make the portable home recording the preferred method for many research and clinical applications.
Sleep 1981 Sep
PMID:Comparisons of home sleep recordings and polysomnograms in older adults with sleep disorders. 730 59

Pentylenetetrazol (PTZ) is often used in experimental models of epilepsy. The relationship of the PTZ-induced seizure sequence of myoclonus, clonus and hindlimb extension (TE) to brain PTZ levels has not been reported. This study examined this relationship and determined how different routes of PTZ administration affected brain PTZ uptake and seizure development. The critical brain PTZ level for onset of clonus ranged from 20 to 50 microg/g. Brain PTZ uptake was rapid after I.P. injection of PTZ convulsant dose (CD55) for clonus/and clonus onset occured at 4.0+/- 1.6 min. uptake was slower after S.C. administration; clonus onset occurred at 9.9 +/- 3.7 min. at a CD for TE (CD40), clonus onset occured at 5.1 +/- 3.0 and 2.4 +/- 2.4 min for S.C. and I.P. routes of administration, respectively. TE onset did not appear to depend solely on brain PTZ levels were falling . Factors that could modulate the appearance of TE are discussed.
J Pharmacol Exp Ther 1980 Sep
PMID:Relationship between pentylenetetrazol-induced seizures and brain pentylenetetrazol levels in mice. 740 Sep 61


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