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)

We reported a case of 89-year-old woman showing rhythmic skeletal myoclonus mainly on the right upper limb. This myoclonus appeared five days after the cerebral infarction. It was seen constantly both at rest and in posture, and decreased during voluntary movement. When the patient was under emotional stress, it spread to the submandibular, neck and trunks of upper limb. During sleep, this movement completely disappeared. There was no myoclonus in palato-pharyngo-laryngo-oculo-diaphragmatic muscle group. In the examination of the surface electromyography, the movement was not reciprocal between extensor and flexor muscles, and its cycle was about 3.5 Hz. It was different from the intention tremor because it did not increase during the movement phase on the finger nose test. The examination of MRI revealed a small infarction including right dentate nucleus and right superior cerebellar peduncle, and from which an infarction of the superior cerebellar artery territory was considered. Only a few cases of rhythmic skeletal myoclonus without palatal myoclonus have been reported in the literature. All of these cases had small infarction of the same region as the above case. Their myoclonus began 5 to 15 days after the onset of cerebral infarction. These periods were markedly shorter than that of intention tremor and palatal myoclonus. This fact suggest that the rhythmic skeletal myoclonus has a different mechanism from that of the palatal myoclonus.
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PMID:[Rhythmic skeletal myoclonus without palatal myoclonus]. 129 64

A family is reported in which 11 members in 4 generations had a benign form of essential myoclonus of early onset. The myoclonic jerks were mostly asynchronous and dysrhythmic. They occurred spontaneously when relaxed, induced by movement, increased in tonus and emotional stress. Generalized seizures was found in 3 members who also had essential myoclonus. The relationship between essential myoclonus and idiopathic epilepsy was stressed. Beneficial effect was obtained with alcohol and clonazepam.
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PMID:Hereditary essential myoclonus. 179 98

The myoclonic epilepsies constitute an heterogeneous group of entities characterized by primary generalized seizures, whose common critical manifestation is myoclonus. Within this group there is a subset of patients, identified by Janz in 1955 as "Impulsive petit mal" and later named "Janz juvenile myoclonic epilepsy" (JJME) by Delgado-Escueta. Its most important clinical features are myoclonus, expressed as mild to moderate jerks of neck, shoulders and arms. These jerks are more frequent when awakening; they can be caused by sleep deprivation and emotional stress, without consciousness impairment. Usually neurologic examinations and mental status are normal. Response to specific treatment is good, with disappearance of seizures in most patients. We attempted to assess the pathophysiologic mechanisms involved in this kind of epilepsy. The existence of differences or similarities with the findings described in the other forms of myoclonic epilepsy was specially considered. In 14 patients with JJME, we performed C reflex studies with negative results. The mean amplitude of somato sensitive evoked potential (SSEP) was around 5 microV (normal values: 2.5 microV) in its different components. Shibasaki et al. suggested that the amplitude increase could be related to a cortical excitability increase at the somatosensory and motor level, which is the probable site of the epileptogenic area. Within the patient group with myoclonic progressive epilepsy (EMP) and continuous partial epilepsy (CPE), SSPEs amplitude ranged from 8 microV to 40 microV. In our patient group, the increase in SSPEs amplitude was smaller than the one observed in the other two entities. However, it was significantly higher than the mean value for the normal population.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Status of cerebral cortical excitability in juvenile myoclonus epilepsy]. 192 91

Startle disease is an autosomal dominant disorder with two phenotypic expressions. In the major form, there is hypertonia in infancy, and later an insecure gait. The patients have falling attacks without unconsciousness and in these, they are often injured or suffer concussions. Episodes of shaking of the limbs lasting for several minutes and resembling generalized clonus or repetitive myoclonus occur. These are most often nocturnal and are also unaccompanied by loss of consciousness. the patients are hyperreflexic and show an increased incidence of associated neurological and electroencephalographic abnormalities. The minor form of startle disease is only manifested by excessive startle and this is inconstant. In infancy it is brought out by febrile illness and in adult life by emotional stress. Gastaut and Villeneuve postulated the existence of a sporadic form of hyperekplexia different from the disorder described by Suhren et al. Review of their report and comparison with the cases of Suhren et al, and our own patients leads us to believe that the sporadic and familial forms of startle disease are the same. The disorder is rare, probably misdiagnosed initially as spastic quadriplegia, and later as epilepsy. Clonazepam appears to be the treatment of choice and its effect is sustained.
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PMID:Startle disease or hyperekplexia: further delineation of the syndrome. 677 25

A 38-year-old woman had an episode of headache, fever and convulsion in October, 1993. She became alert in two weeks, though weakness and atrophy remained in the upper limb muscles. She was diagnosed as Russian spring summer encephalitis (RSSE) based on several serological studies. Three kinds of involuntary movements were noted after recovery. These were spontaneous muscle jerks in the left arm, action tremor in the right arm and pathological associated-movement in the right leg. The movements were studied physiologically by electroencephalogram (EEG)-electromyogram (EMG) polygraphic recordings, jerk-locked averaging (JLA), magnetencephalography (MEG), and sensory evoked potentials (SEPs). The jerky movements in her left arm were observed at rest and aggravated by emotional stress. EEG-EMG polygraph showed that the jerks were sometimes associated with small spikes thus were considered to be due to epilepsia partialis continua (EPC). JLA analysis revealed a pre-myoclonus spike on the right hemisphere which preceded the onset of the jerk in the left first dorsal interosseous muscle by 25.2ms, which was equal to the magnetic cortical latency of that muscle. Jerk-locked magnetic field, obtained by averaging neuromagnetic activities with respect to the onset of myoclonus, showed that the spike preceding the jerk, originated from the right motor cortex. The spontaneous spikes were localized mainly on the right motor cortex. Sensory evoked potentials (SEPs) were normal in both size and latency. No hyperexcitability of the sensory cortex was demonstrated even by using paired stimulation SEPs. Based on these results, we conclude that the jerky movements in this patient were produced by abnormal spontaneous discharges in the motor cortex. The action tremor had a frequency of 4-5 Hz and its clinical features were compatible with cerebellar tremor. This is thought to result from a lesion in the left thalamus, affecting the cerebellothalamic pathways. Her right leg unintentionally moved whenever she began to move the hands. This was considered to be a pathological associated-movement due to dysfunction of the pyramidal tracts.
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PMID:[Involuntary movements observed in a patient with Russian spring summer encephalitis]. 881 Aug 52

Three families with a common clinical feature of adult onset myoclonus epilepsy were studied. Onset of the myoclonus, continuously presented and intensified by movement and emotional stress, was between the 3rd and 5th decades. Generalized seizures, following worsening of the myoclonus, occurred only a few times in life. This condition was considered to be an autosomal dominant trait with a high rate of penetrance. Although the symptoms gradually worsened with age in some cases, they were not associated with dementia or cerebellar disorder, distinguishing this condition from progressive myoclonus epilepsies (PMEs). Electrophysiologically, polyspikes on the electroencephalogram (EEG), giant wave in somatosensory evoked potentials, enhanced long-loop C reflexes and a preceding wave on jerk-locked back averaging of EEG were demonstrated, suggesting that the myoclonus originated in the cerebral cortices. This is a distinct hereditary disease different from PMEs, juvenile myoclonic epilepsy or other myoclonic disorders seen in adults.
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PMID:Familial benign myoclonus epilepsy of adult onset: a previously unrecognized myoclonic disorder. 907 39

Three cases of late onset Gilles de la Tourette's syndrome are presented. The motor tics were mainly induced by an unexpected startling stimulus, but the startle reflex was not exaggerated. The tics developed after physical trauma or a period of undue emotional stress. Reflex tics may occur in Gilles de la Tourette's syndrome, but have not been described in late onset Tourette's syndrome. Such tics must be distinguished from psychogenic myoclonus and the culture bound startle syndromes.
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PMID:Late onset startle induced tics. 1056 98

Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32) years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted.
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PMID:Creutzfeldt-Jakob disease : report of 10 cases from North India. 1196 47

What's involuntary movement? To define the involuntary movement, we should define the voluntary movement. It is, however, difficult to define the voluntariness. The involuntary movement usually indicates some abnormal movement occurring without any movement intention of the subject which excludes any reflex movements, such as tendon reflexes or normal startle response. How to see patients with involuntary movements Classification of involuntary movements entirely depends on clinical features of movements. The method to see the patients, therefore, follows how to describe the movements when explaining those to others. The three main points to care are as follows. Regularity in time or rhythmicity of the movement: regular, mostly regular, irregular or completely irregular. The most rhythmic one is tremor and most irregular one is myoclonus. Conditions inducing involuntary movement: resting, postural, during movement, emotional stress, sensory trick or others. These are important factor to see actual movements in clinical practice. To make an inducing condition in the clinic is sometimes required to see the symptoms. Pattern of involuntary movements: irregular, stereotypical, distribution of moving muscles, right-left difference and others. Several kinds of involuntary movements are presented in my talk.
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PMID:[Involuntary movements: video presentation]. 2319 35

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME)/familial adult onset myoclonic epilepsy (FAME) is a nonprogressive disorder characterized by (1) distal tremors that are usually precipitated by posture and action; (2) stimulus-sensitive myoclonus that is predominantly seen in the upper limb and is precipitated by photic stimuli, fatigue, emotional stress, and sleep deprivation; (3) seizures that were predominantly of the generalized tonic-clonic type that showed significant response to antiepileptic drugs (AEDs). ADCME has been reported worldwide with different genetic loci in Japanese families (8q23.3-q24.1), Italian families (2p11.1-q12.2), a French family (5p15.3.1-p15.1), and a Thai family (3q26.32-q28). ADCME has not been reported in South India and is still not recognized as an independent entity under the International League Against Epilepsy (ILAE). We report 241 patients with ADCME identified belonging to 48 families. The 48 families are domiciled in two southern districts of Tamilnadu in India, belonging to a community called "Nadar" whose nativity is confined to these southern districts, with reported unique genetic characteristics. This study is reported for the presentation of this rare disease in a unique ethnic group, and is the largest single report on ADCME worldwide.
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PMID:Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) in a unique south Indian community. 2674 94


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