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 identified the IgG autoantibody ANNA-2 ("anti-Ri") in 34 patients in a 12-year period by immunofluorescence screening of sera from approximately 75000 patients with subacute neurological disorders that were suspected to be paraneoplastic. Detailed clinical information was available for 28 patients (10 men, 18 women). Cancer was diagnosed in 24 patients (86%); 21 had histologically proven carcinoma (10 lung, 9 breast, 1 cervical, 1 bladder), and 3 had an intrathoracic imaging abnormality. Cancer anteceded neurological symptoms in 4 of 28 patients. Cancer detection frequency increased with continued surveillance. Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, encephalopathy, Lambert-Eaton syndrome, and seizures. Four patients had laryngospasm and four had jaw opening dystonia (two with neck dystonia). Nine (32%) were wheelchair-bound 1 month after neurological symptom onset. Most improved neurologically after immunomodulatory or tumor-directed therapy. Accompanying autoantibodies, found in 73% of sera, included ANNA-1, ANNA-3, CRMP-5-IgG, P/Q-type and N-type Ca(2+) channel antibodies, and muscle-type acetylcholine receptor antibody. Some neurological accompaniments of ANNA-2 may reflect potentially pathogenic humoral or cell-mediated responses to coimmunogenic tumor antigens, for example, Lambert-Eaton syndrome (P/Q-type Ca(2+) channel antibody) and peripheral neuropathy (ANNA-1 effector T cells).
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PMID:Anti-neuronal nuclear autoantibody type 2: paraneoplastic accompaniments. 1273 Sep 91

Movement disorders are physiologically studied based on three principles; 1. relation between movements and brain activities, 2. excitability and inhibitory mechanisms of motor cortices, and 3. sensorimotor integration. Regardless of voluntary or involuntary movements, the study on how the movement in question is related to brain activities provides an important information as to its pathophysiology. This can be studied by jerk-locked averaging of electroencephalogram or magnetoencephalogram in case of involuntary movements and movement-related cortical potentials for voluntary movements, change of cortical rhythmic activities in relation to movement (event-related desynchronization or synchronization), cortico-muscular coupling(coherence), and neuroimaging techniques such as PET, SPECT and fMRI. Excitability and inhibitory mechanisms of motor cortices can be studied by applying transcranial magnetic stimulation. Positive and negative myoclonus of cortical origin is related to abnormal hyperexcitability of the positive and negative components, respectively, of the primary motor cortex (M1). Focal dystonia is associated with impairment of inhibitory mechanisms in M1. The simplest form of abnormal sensorimotor integration is cortical reflex myoclonus. In the choice reaction time task, contingent negative variation is reduced in a task-specific way in focal dystonia. Effect of movement on somatosensory processing (gating) is abnormal immediately before the movement onset in focal dystonia, again in a task-specific way. Daily activities like gait can be studied by SPECT which does not require fixation of the subject's head during the task performance.
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PMID:[Clinical neurophysiology of movement disorders]. 1278 75

The term "myoclonus" sounds esoteric, yet it is part of our normal physiology, occurring as a muscle jerk on drowsiness or falling asleep, during rapid eye movement (REM) sleep, and as hiccoughs. Myoclonus is also a developmental feature of the human nervous system, comprising some of the earliest fetal movements. In pathologic settings, myoclonus may be the only neurologic abnormality, as in essential myoclonus, but more often it is one symptom of a larger neurologic problem. The vast etiologic spectrum of symptomatic myoclonus can be bewildering, but defining the underlying problem may provide the opportunity to develop specific therapies. Otherwise, treatment is merely symptomatic. The approach to the patient should be to verify the nature of the movement disorder and establish a specific etiologic diagnosis. A battery of neurophysiologic, neuroradiologic, and other laboratory studies is needed to localize the origin of the myoclonus and identify causative lesions. Drug treatment is largely empiric but must be systematic and aimed at restoring activities of everyday living. Unlike in epilepsies, in myoclonus multiple drugs usually must be combined to attain functional improvement.
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PMID:Myoclonus in childhood. 1278 47

Movement disorders as postinfectious manifestation of group A streptococcal infections have been reported and are thought to occur on an autoimmune basis. We describe an unusual case of multifocal myoclonus following strep throat infection. Clinical description and chart review were the method used. A 10-year-old boy developed focal myoclonus involving his right arm and shoulder 1 week after streptococcal throat infection treated with penicillin. His magnetic resonance image was normal, and he initially responded to clonazepam but did not sustain a response. The myoclonus spread to involve all limbs and the trunk becoming multifocal over the next few weeks. He did not have choreoathetosis of Syndenham's chorea. He was given one course of intravenous immunoglobulin and became asymptomatic after treatment. He remained symptom free for 8 months following intravenous immunoglobulin treatment. Various symptoms have been reported following group A streptococcal infections in children. These neurobehavioral abnormalities may be mediated through antineuronal antibodies. Our case demonstrates multifocal myoclonus as a poststreptococcal autoimmune phenomenon. To our knowledge, only two other cases of poststreptococcal myoclonus have been reported in the literature. Recognition of this unusual condition as a manifestation of autoimmune poststreptococcal disease in children is essential to avoid overinvestigation and to ensure early treatment.
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PMID:Multifocal myoclonus following group A streptococcal infection. 1288 83

We describe a 66-year-old, HIV-seropositive patient presenting with ataxia and upper limb rhythmic myoclonus activated by postural maintenance. Electromyograph (EMG) recordings of the forearm muscles showed 50-msec bursts, with a frequency of 10 Hz, concurring with frontocentral electroencephalograph (EEG) rhythmic activity. Autoregressive spectral analysis applied to the EEG-EMG traces made it possible to detect significant coherence between the rhythmic EEG discharges and EMG bursts. The amplitude of the middle-latency somatosensory evoked potentials was increased. Long-latency reflexes were enhanced. On the basis of the electrophysiological findings, the movement disorder should be considered a rhythmic variant of cortical myoclonus. In our patient, HIV infection may have caused a dysfunction in the central nervous system pathways involving the cerebellum and sensorimotor cortex, similar to that occurring in genetically determined conditions characterised by cortical myoclonus.
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PMID:Rhythmic cortical myoclonus in a case of HIV-related encephalopathy. 1467 94

Six cases representing the most commonly encountered movement disorders-restless legs syndrome with periodic limb movements, tics, myoclonus, chorea, essential tremor, and cervical dystonia-are presented. Discussion of each case focuses on a practical approach to recognizing the important clinical features of each movement disorder as well as the current therapeutic options. A detailed discussion of botulinum toxin follows the case on cervical dystonia, focusing on its mechanism of action, clinical indications, side effects, and dosing.
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PMID:Case studies in movement disorders. 1472 23

Benign neonatal sleep myoclonus is a self-limited movement disorder characterized by neonatal-onset myoclonic jerks only during sleep, abrupt and consistent cessation with arousal, and absence of concomitant electrographic changes suggestive of seizures. It has a good outcome and was included in the differential diagnosis of neonatal seizures. A presumed transient serotonin imbalance and genetic factors may play a role in the pathogenesis of this disorder. We report a case of benign neonatal sleep myoclonus mimicking status epilepticus in an infant with a family history of nocturnal myoclonus, tic disorder, and sleep disturbance. We suggest that this benign entity should be included in the differential diagnosis of status epilepticus during the newborn period.
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PMID:Benign neonatal sleep myoclonus mimicking status epilepticus. 1503 88

The main clinical characteristics and aetiology of drug-induced tremor and acute movement disorders (myoclonus, chorea, athetosis, dyskinesia, dystonia, tics) are reviewed and discussed in this article. Tremor is the most frequent drug-induced acute movement disorder. Drug intake (and, initially, true or 'hidden' neuroleptic or psychoactive drugs) should be suspected as the cause of every abnormal movement. Drug-induced acute movement disorders usually disappear spontaneously after withdrawal of the suspected drug without any drug treatment. Drug-induced tremor and movement disorders are often poorly described in the Summary of Products Characteristics (SPC).
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PMID:[Drug-induced tremor and acute movement disorders]. 1520 22

Movement disorders are a potential neurologic complication of acquired immune deficiency syndrome (AIDS), and may sometimes represent the initial manifestation of HIV infection. Dopaminergic dysfunction and the predilection of HIV infection to affect subcortical structures are thought to underlie the development of movement disorders such as parkinsonism in AIDS patients. In this review, we will discuss the clinical presentations, etiology and treatment of the various AIDS-related hypokinetic and hyperkinetic movement disorders, such as parkinsonism, chorea, myoclonus and dystonia. This review will also summarize current concepts regarding the pathophysiology of parkinsonism in HIV infection.
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PMID:Movement disorders and AIDS: a review. 1526 74

Mutations in the epsilon-sarcoglycan gene (SGCE) have been reported in families with myoclonus-dystonia (M-D). In addition to abnormal movements, obsessive-compulsive disorder (OCD) has also been described in families with M-D. OCD is a common feature in another movement disorder, namely Tourette syndrome (TS). The comorbidity of these disorders suggests that common genetic factors might be involved in their susceptibility. To evaluate this, we performed two sets of experiments. An association study using a polymorphism within an intron of the SGCE gene was assessed in patients with TS and OCD versus controls, and the SGCE gene itself was screened for mutations in all TS/OCD patients, followed by direct sequencing of the gene in a limited number of these patients. No correlation was found by either method.
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PMID:Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. 1536 14


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