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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 22-year-old woman with progressive myoclonus epilepsy associated with the first and second branchial syndrome is described. Clinical features included generalized convulsive seizure, myoclonus, cerebellar ataxia and intellectual deterioration with micrognathia and malformation of auricles. She was initially suspected of mitochondrial encephalomyopathy, but the analysis of muscle biopsy and mitochondrial enzyme activities was negative. Her micrognathia and malformation of auricles were diagnosed as the first and second branchial syndrome. The case of progressive myoclonus epilepsy associated with this syndrome has never been reported, and the relationship between them remains unknown.
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PMID:[A case of progressive myoclonus epilepsy with the first and second branchial syndrome]. 176 51

The authors compare the clinical, neurophysiological and evolutive features of progressive myoclonus epilepsy (PME) associated with mitochondrial encephalomyopathy with ragged-red fibers (MERRF), based on 49 cases from the literature, and the two well-described types of degenerative PME: Baltic myoclonus (BM), of which over 100 cases have been reported from Finland, and Mediterranean myoclonus (MM), based on a personal series of 43 patients. Degenerative PMEs are age-dependent, recessively inherited conditions with homogeneous clinical signs and course; there are no major clinical symptoms beside the cardinal symptoms: generalized epileptic seizures, predominantly action myoclonus and cerebellar dysfunction; mental deterioration when present, is slight and progresses very slowly; associated neurological symptoms are uncommon and limited to mild spino-cerebellar involvement. In MERRF, the transmission is maternal, the age of onset is variable, the evolution is not stereotyped and associated symptoms are many (deafness, muscle weakness, optic atrophy, short stature, sensory disturbances, spasticity, clinical or neurophysiological signs of peripheral neuropathy, absence of motor reflexes); muscle biopsy generally shows ragged-red fibers. The differential diagnosis between these conditions is usually easy, although pathological examination (i.e. muscle biopsy) should be performed.
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PMID:[The role of mitochondrial encephalopathies in progressive myoclonus epilepsy]. 196 55

Among progressive myoclonus epilepsies (PME), the nosography of the Ramsay Hunt syndrome (RHS) has been much debated. The authors report on a homogeneous group of 43 patients originating from around the western Mediterranean, with a large number of northern African subjects, who were followed up for a mean period of 11.6 years. Onset is between 6 and 17 years (mean: 11.2) and the transmission appears to be recessive. The clinical features include: action myoclonus, generalized epileptic seizures, mild cerebellar signs and lack of dementia. EEG features include normal background activity, spontaneous fast generalized spike-wave discharges, photosensitivity, lack of activation during nREM sleep and vertex/rolandic spikes during REM sleep. The prognosis is variable, even within families, but the progression seems to be slow in a majority of patients. This condition can be distinguished from mitochondrial encephalomyopathy and is less severe than Baltic myoclonus. The authors propose that this form of PME, formerly reported as RHS, be more properly described as Mediterranean myoclonus.
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PMID:The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. 210 22

It has been suggested from studies of patients with progressive myoclonus epilepsy that the term Ramsay Hunt syndrome should be abandoned, as its use has led to nosologic confusion, and because, in the light of modern diagnostic techniques, the majority of cases can be allocated to specific disease categories, chiefly, Unverricht-Lundborg disease (Baltic myoclonus) and mitochondrial encephalomyopathy. Review of 30 cases of this syndrome, defined as progressive ataxia and myoclonus and infrequent seizures in the absence of dementia, showed that a clinical or biochemically supported diagnosis could not be made in 43%. This low diagnostic yield probably reflects differences in ascertainment of patients; those described here were referred with a syndrome of progressive myoclonic ataxia (the Ramsay Hunt syndrome) rather than progressive myoclonus epilepsy. These two syndromes share common causes, but a smaller proportion of patients with progressive myoclonic ataxia can currently be diagnosed precisely during life.
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PMID:Progressive myoclonic ataxia (the Ramsay Hunt syndrome). 212 Nov 21

A case of mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency was reported with special reference to electrophysiological studies. A 56-year-old man was readmitted to Himeji Central Hospital due to mental deterioration and character change. At the age of 44 when he was attacked by his first epileptic seizure, he was admitted to Himeji Central Hospital, where EEG abnormalities and cerebral atrophy were found. Anticonvulsants helped to relieve his generalized convulsions but the EEG abnormalities persisted. At age 46, he had the second generalized seizure, so he quit his job as a crane operator. His family began to notice deterioration of his intellectual function and hyperaggressive behavior. His daily activities, intellectual performance and mental condition gradually deteriorated (WAIS FIQ less than 60). Other clinical and laboratory findings are as follows: bilateral impaired hearing, no optic nerve atrophy, no disturbance of extra ocular muscle movements, mild wasting and weakness of his extremities, normal coordination and sensation, no myoclonus or other involuntary movements, normal laboratory data of serum creatinine kinase, lactate dehydrogenase and aldolase, and increased amount of lactate and pyruvate in serum and cerebrospinal fluid (CSF), no abnormal amino acids in urine. A biopsy specimen of right biceps brachii muscle revealed numerous ragged-red fibers in frozen sections stained by the Gomori trichrome method. These fibers did not react to a cytochrome c oxidase staining. An ATPase staining demonstrated an atrophy of type-2 fibers. An electron micrograph showed many mitochondria in the sarcoplasm but few paracrystalline inclusions. A biochemical analysis of the muscle biopsy also revealed a significant decrease in the cytochrome c oxidase activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A mitochondrial encephalomyopathy due to partial cytochrome c oxidase deficiency with giant evoked potentials--a case report]. 217 89

We have reported the clinical and autopsy findings in a case with generalized seizures, myoclonus, blindness and deafness which was accompanied by stroke-like episodes. This case was diagnosed as mitochondrial encephalomyopathy, lactic acidosis & stroke-like episodes (MELAS) from these findings. Solitary and continuous lesions of softening were distributed in both hemispheres, more severely in the frontal and occipital poles. These lesions did not correspond to a vascular supply. The pulvinar, lateral and medial geniculate body of the thalamus, cerebellar vermis and dentate nucleus had small lesions of softening. The cortical lesions occurred mainly in layer 4, and the most prominent lesions among them appeared cystic, involving the subcortical white matter, but nerve cells in layer 1 and 2 were preserved. Proliferation of small blood vessels was seen around the softening areas. Electron microscopy revealed increased mitochondria in endothelial cells of these vessels, abnormal dense bodies in skeletal muscle cells and tightly packed mitochondria in choroid plexus epithelial cells. Immunohistochemical study suggested that vimentin positive cells were seen around lesions and proliferated vessels are different from those seen in the intact tissues.
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PMID:[An autopsy case of generalized seizures, myoclonus, blindness and deafness]. 220 39

We report a 3-year-11-month-old boy who manifested action myoclonus only. Histochemical analysis of the quadriceps muscle revealed subsarcolemmal hyperactivity. The administration of 5-hydroxytryptophan and carbidopa dramatically improved the action myoclonus and reduced an amplitude of giant somatosensory evoked potentials. A nosological relation of this case with "essential myoclonus" and mitochondrial encephalomyopathy was discussed.
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PMID:Improvement of action myoclonus by an administration of 5-hydroxytryptophan and carbidopa in a child with muscular subsarcolemmal hyperactivity. 228 84

We reported a case of mitochondrial encephalomyopathy with repeated stroke-like episodes. A 33-year-old single male was admitted to our hospital because of stroke-like episodes with visual field defect, hemiplegia and convulsion repeated seven times for the past seven years. There were no abnormalities on the physical examination. He was hallucinative and perseverative and had mental deficiency. Muscle weakness and atrophy were not prominent, and generalized hyporeflexia were present without pathological reflexes. Myoclonus was not observed. Serum CK and blood gas analysis were normal (pH 7.398). Although blood levels of lactate and pyruvate were almost within normal limit, lactate was elevated by 20WATT-15 minutes exercises. On the contrary, the CSF levels of lactate and pyruvate were elevated markedly. CT of the brain revealed the presence of the low density areas in the right occipital and the left frontal lobes. Cranial 4 vessels studies were unremarkable. EEG showed the diffuse slowness with spike and wave complex. CT of the muscles were normal. A specimen obtained from the left biceps brachii muscle showed ragged-red fibers without obvious myogenic or neurogenic changes, and accumulations of abnormal mitochondria with paracrystalline inclusion bodies were observed by electron microscopy. However, mitochondrial abnormalities were not seen in the vessel walls in the biopsied muscle. Activities of complex I + III, II + III, IV in mitochondria were normal. Clinical features of this case were consistent with MELAS. However, this case showed no muscle weakness, short stature and lactic acidosis which characterize MELAS, and the onset of this case was later than those cases that were reported before.
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PMID:[A case of mitochondrial encephalomyopathy characterized by repeated stroke-like episodes]. 250 53

We reported a girl with mitochondrial encephalomyopathy, who had various neuromuscular symptoms including dilated cardiomyopathy, generalized convulsions, myoclonus, muscular weakness and growth retardation. Lactate levels in the serum and CSF were elevated. Muscle biopsy showed scattered ragged-red fibers, and complex I (NADH-CoQ reductase) and complex IV (cytochrome c oxidase) were markedly reduced. Although she was treated with coenzyme Q, DL-carnitine and sodium succinate, she died of progressive congestive heart failure at 9 10/12 years of age.
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PMID:[A case of mitochondrial encephalomyopathy with cardiomyopathy due to decreased complex I and IV activities]. 255 57

Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arrhythmic myoclonus, an arrthesthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases. Intermittent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a subcortical origin for this type of myoclonic syndrome.
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PMID:Non-epileptic myoclonus and mitochondrial encephalomyopathy. 261 13


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