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)

A 70 years-old man was admitted at our hospital because of unstable angina pectoris. He had essential hypertension and right hemiplegia from a ischemic stroke two years before admission. On neurologic examination, it was found mental disorientation, unstable emotionality, right spastic hemiparesis with right Babinski sign, and segmental myoclonus affecting the superior lip and the palate (palatal nystagmus) on the right side. On the CT scan, a giant aneurysm of the basilar artery was detected. We conclude that the segmental myoclonus could be explained by ischemic lesions in the Guillain-Mollaret triangle.
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PMID:Segmental myoclonus and basilar artery. Giant aneurysm. Case report. 130 61

Neuropathological study of the visual pathway from the retina to the occipital cortex in Creutzfeldt-Jakob disease (CJD) has been scarcely performed. In the present study, pathological involvement of the visual pathway was observed in a 54-year-old man with CJD. The patient had the onset of visual disturbances in December 1985. He subsequently developed progressive dementia, right hemiparesis, ataxia and dysarthria, and rapidly fell into decerebrate posture in February 1986. In March 1986, myoclonus appeared on the whole body and EEG revealed periodic synchronous discharges, while brain CT and CSF findings showed no abnormalities. Myoclonus was observed most frequently from May to October 1986, and then reduced gradually. Brain atrophy on CT started from April 1986, and was progressive till the end stage of the disease. He died in January 1988, and the total clinical course was about 24 months. Neuropathological examination revealed severe degeneration of the cerebral cortex and the white matter. In the cerebral cortex, marked loss of neurons, astrogliosis, and spongiform changes were observed. In the cerebral white matter, the destruction of myelin sheaths and axons were evident. The cerebellum showed prominent loss of granule cells. These findings are consistent with those of the panencephalopathic type of CJD. In the visual pathway, loss of ganglion cells and bipolar cells in the retina, mild demyelination of the optic nerve, neuronal loss in the lateral geniculate body, and severe degeneration in the visual cortex were observed. The present case suggests that the neuropathological investigation in the visual pathway from the retina to the occipital cortex is important for clarifying the pathological processes in the visual system in CJD.
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PMID:[A case of the panencephalopathic type of Creutzfeldt-Jakob disease with retinal involvement]. 142 8

Serial brain CT and 123I-IMP SPECT were examined in a case with Creutzfeldt-Jakob disease (CJD). A 61-year-old woman had the onset of progressive dementia and gait disturbance in December 1988. Then, she developed left hemiparesis and dysarthria, and rapidly fell into akinetic mutism within about 2 months. Brain CT, MRI, and CSF findings showed no definite abnormalities. In February 1989, myoclonic movements appeared in several parts of the body and EEG revealed periodic synchronous discharges. Myoclonus was observed most frequently from March to May 1989, and then reduced gradually. She died in June 1990, and the total clinical course was 19 months. Brain atrophy on CT started from about 4 months after the onset, and progressed subacutely. At the end stage of the disease, diffuse brain atrophy including the cerebellum and the brain stem on CT was observed. SPECT revealed decreased perfusion in the cerebral cortex from 5 months after the onset to the end stage, but; perfusion in the cerebellum and the basal ganglia was relatively kept even at the end stage of the disease. The results suggest that SPECT is a useful examination for presumption of the pathological processes in CJD.
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PMID:[Serial brain CT and 123I-IMP SPECT in a case with Creutzfeldt-Jakob disease]. 155 58

A case of juvenile Alzheimer's disease with various neurological features such as myoclonus, also showing grumose degeneration in the dentate nucleus was reported. In a 35 year old woman, at first myoclonus, and 5 years later, progressive dementia were found. She, then, fell into apallic syndrome 9 years later, and died of pneumonia at the age of 53. She had no particular family history. Neurological examination disclosed cerebellar ataxia, left hemiparesis, convulsion in addition to myoclonus. Neuropathologically, there were a lot of senile plaques and neurofibrillary tangles in the cerebral cortex. A marked myelin loss in the white matter and a neuronal loss in the basal ganglia were also found. And grumose degeneration in the cerebellar dentate nucleus distinctively characterize the present case. The myoclonus and cerebellar ataxia could be attributed to the grumose degeneration. Two similar cases had been previously reported. Juvenile Alzheimer's disease with grumose degeneration like the present case was considered to be one of the subgroups of Alzheimer's disease.
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PMID:[A case of juvenile Alzheimer's disease with various neurological features such as myoclonus, showing grumose degeneration in the dentate nucleus]. 222 61

Movement disorders are well-known presenting signs of metabolic disorders. Focal motor abnormalities may be the chief initial presentation of diabetes mellitus in the nonketotic hyperglycemic state in 6% of patients. Nonketotic hyperglycemia (NKH), in particular, may manifest any of a wide variety of movement disorders. These have been described as focal seizures, epilepsia partialis continua, myoclonus, and opsoclonia. There are descriptions of movement disorders in hyperglycemia that are similar to the coarse flapping tremor of asterixis, the posturing of paroxysmal kinetogenic choreoathetosis, and of "fencing (stance) seizures." Disorders of facial motor function including aphasia, facial muscle twitching and jerking, and disorders of muscular tone have been described. These may include hemiparesis and hemiplegias as well as increased tone, in some cases mimicking the nuchal rigidity of meningitis. The movement disorders in NKH may mimic cerebral vascular accidents, meningitis, or psychiatric disorders, as well as various types of seizures. Clinicians may be able to avoid expensive and time-consuming diagnostic evaluations to rule out NKH in patients with movement disorders. We present two patients with focal motor abnormalities associated with nonketonic hyperglycemia and review the pertinent literature.
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PMID:Movement disorders as a manifestation of nonketotic hyperglycemia. 260 Mar 93

Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mild progressive hemiparesis. Electrographic investigations showed focal epileptic discharges in the contralateral rolandic areas. Radiological studies were unrevealing, but magnetic resonance showed rolandic lesions in 3 patients. At surgery, abnormally wide gyri were found in the distribution demonstrated by magnetic resonance. The pathological substrate was focal cortical dysplasia. All patients have improved considerably following surgery. These findings suggest that focal myoclonus may be due to a rolandic neuronal migration disorder. Visualization of these lesions by magnetic resonance permits development of a surgical strategy leading to optimal treatment of these medically intractable epileptic disorders.
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PMID:Focal cortical myoclonus and rolandic cortical dysplasia: clarification by magnetic resonance imaging. 313 90

Prominent neurological abnormalities, including myoclonus, seizures, ataxia, and hearing loss, have been noted in juvenile-onset biotin-responsive MCD. The underlying defect in many of these patients, who generally present in the first year of life, appears to be a deficiency of biotinidase. We have presented a young woman with adult-onset myoclonus, ataxia, hearing loss, seizures, hemianopia, and hemiparesis who responded to pharmacologic dosages of biotin. Although she displayed many of the clinical and biochemical features of juvenile-onset MCD, she did not have a biotinidase deficiency, and the underlying defect remains to be determined. Because of her response to biotin, we have advocated that other patients with unexplained myoclonus syndromes be evaluated for biotin-dependent carboxylase deficiencies and undergo a therapeutic trial with biotin.
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PMID:Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures. 394 8

Septic encephalopathy is an early manifestation of sepsis. Changes in consciousness, focal or generalized seizures, multifocal myoclonus and/or varying hemiparesis are common clinical findings. All of these symptoms are reversible when sepsis has been successfully treated. Because there are no generally accepted criteria for the diagnosis of septic encephalopathy, it is a diagnosis of exclusion. We report the case of a 68-year-old patient who developed septic encephalopathy secondary to diarrhea and E. coli sepsis. In this case, symptoms of septic encephalopathy were fully reversed after the patient's E. coli sepsis had been adequately treated.
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PMID:[Diarrhea, coli infection, septic encephalopathy: escalation of a seemingly banal symptom]. 772 73

The technique of transcranial magnetic stimulation of the motor cortex is a new neurophysiological examination of the central motor pathways. In clinical application a reduced MEP/M wave amplitude ratio had a higher correlation with hyperreflexia than did a delayed MEP onset latency. The inhibitory period (IP) which is a transient suppression of muscle action potentials following motor evoked potentials (MEP) by magnetic cortical stimulation is caused primarily by inhibitory process in the motor cortex, because the duration of IP did not depend on the amplitude of MEPs, MEP distribution over the motor cortex or severity of voluntary contraction. Furthermore, the IP was shorter and the amplitude of MEP was increased when ipsilateral motor cortex stimulation to the thenar muscle preceded the contralateral cortex stimulation. C response in a patient with familial essential myoclonus was significantly suppressed by the magnetic stimulation of the sensory cortex locally and during the IP. The uncrossed pyramidal tract was proved by motor cortex stimulation in a patient with hemorrhage in the right thalamus and internal capsule who showed a right hemiparesis. The enhancement of cortical SEP amplitudes (P23 and N30) were noted when the median nerve was stimulated at 50 msec following magnetic stimulation over the sensory cortex locally. SEPs by twin coil stimulation at thoracic and lumbar root levels are useful in detecting the lesions of spinal cord or roots. Sympathetic skin responses and sudomotor potentials are recorded easily by the neck magnetic stimulation, and are useful method for evaluating sympathetic nerve function.
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PMID:[Transcranial magnetic stimulation]. 777 29

The case of a 42-year-old Sudanese man is reported who had developed hyperpigmentation of the left face and rapidly progressive right hemiparesis followed by myoclonus at the age of 30. Blue-grey hyperpigmentation was noted in the territory of the left ophthalmic, maxillary and mandibular trigeminal nerve branches, with alopecia of the right face and axilla. CT of the brain revealed left-sided paraventricular calcifications and MRI showed atrophy of the left cerebral hemisphere and mesencephalon, a calcified haemangioma in the left basal ganglia, an old infarct in the right central pons, and cerebellar atrophy. This case resembles Ota's syndrome; however, atypical distribution of the facial nevus, the epidermal location of hyperpigmentation, and the combination of vascular and degenerative cerebral malformations indicate that this is a new hitherto unreported neurocutaneous vascular syndrome.
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PMID:A new neurocutaneous syndrome possibly related to Ota's nevus. 822 56


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