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 21-year-old woman had typical clinical and biochemical findings of the cherry-red spot-myoclonus syndrome. She had 20/50 acuity in each eye, flutter-like ocular oscillations, rebound nystagmus, and transient vertical dissociation. Cherry-red maculas and optic atrophy were present. Although electroretinographic signals were normal, visual evoked potentials were almost absent. Levels of neuraminidase were significantly reduced in cultured ebroblasts from the patient and her parents, while lysosomal inclusions probably containing oligosaccharides were found in her conjunctival fibroblasts.
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PMID:Cherry-red spot-myoclonus syndrome. 55 58

In five generations of Anglo-Saxon family W, 28 members were affected with dominant hereditary ataxia. In 1969, two members of this family were reported as prototypes of dominant spinopontine atrophy. We discuss two additional members of the original family, with one postmortem examination, including ultrastructual study. In contrast to previously accepted clinical generalizations, we found abolished tendon reflexes and flexion contractures of the lower extremities in patient 1 and onset of illness at the age of 18 years, palatal myoclonus, and optic atrophy in patient 2. Dementia was observed in both patients. Unlike in previous pathological reports, our patient 1 showed definite involvement of the cerebellum and mild degeneration of the inferior olivary nuclei. We conclude, therefore, that clinical and pathological distinction between dominant spinopontine atrophy and olivopontocerebellar atrophy is not clear and raises the question of the justification for regarding dominant spinopontine atrophy as a nosological entity.
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PMID:Dominant spinopontine atrophy. Report of two additional members of family W. 62 60

Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with diazepam and ethosuximide.
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PMID:Progressive familial myoclonus epilepsy. 118 22

We report the cases of 2 siblings with progressive encephalopathy. The first symptoms were noted when they were 6 years old. The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions. The course was progressive and led to death within 8 years. The pathological findings included bilateral and almost symmetrical lesions involving the thalami, the colliculi, and the pontine and medullar tegmentum, similar to the changes described in Leigh disease. Neuronal loss and gliosis were noted in the dentate nucleus and in the inferior olive, as in MERRF syndrome. Laminar necrosis of the cerebral cortex could have been due to episodes of severe hypotension before death. Cytochrome c oxidase deficiency was found in case 2. The enzyme deficiency was present in muscle and in fibroblasts in culture.
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PMID:[Familial mitochondrial encephalopathy. A clinicopathologic study]. 166 Jan 81

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

A 19-year-old woman with long-standing sensorineural deafness, bilateral cataracts and mild clumsiness, presented with acute focal edema in the left temperoparieto-occipital area which required surgical decompression as a life-saving measure. Investigation revealed a persistent lactic acidemia and evidence of many ragged red fibres in a skeletal muscle biopsy specimen, suggesting a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. The patient developed two further stroke-like episodes over a short period. One sibling died at the age of 14 years with a progressive neurological illness characterised by seizures, bilateral optic atrophy, ataxia, myoclonus and progressive dementia. The diagnosis of MELAS syndrome should be considered in young people presenting with stroke-like episodes that fail to conform to a given vascular territory, particularly if they have long-standing minor neurological abnormalities or a family history of obscure early onset neurological disease. The different clinical pictures in the two affected siblings in this family suggest that MELAS syndrome is part of a spectrum of inherited mitochondrial cytopathies rather than a discrete disease entity.
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PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 339 2

We reported a case of late infantile neuronal ceroid-lipofuscinosis. The patient was an 8-year-old boy presenting with marked psychomotor deterioration, progressive visual failure due to retinal degeneration and optic atrophy, startle reaction to auditory stimuli, frequent myoclonus and generalized convulsions. The routine laboratory examinations were all normal. EEG was markedly abnormal because of poorly organized background activity and frequent paroxysmal spike-and-wave complexes. CT scan showed evidence of severe atrophy of the cerebrum, cerebellum and brainstem. Electron microscopic examination of the biopsied rectum revealed fingerprint profiles in the neurons and pericytes beneath the muscularis mucosa. Cultured skin fibroblasts also contained electron dense inclusions, some of which showed fingerprint profiles. Urinary glycopeptides were normal. Lyscsomal enzyme activities in leukocytes and cultured fibroblasts were normal. Neurophysiological studies revealed giant cortical potentials evoked by the auditory as well as somatosensory stimulation. Simultaneous recording of the somatosensory evoked EEG and EMG potentials disclosed that the myoclonus in this patient was stimulus-sensitive and compatible with the cortical reflex myoclonus. With regard to hypothetical pathogenesis of this disease, we studied lipoperoxide in the blood before and after anti-oxidant therapy. We also measured vitamin A and carotene, since these substrates are related to retinoic acid. Although vitamin A and carotene were normal, lipoperoxide was slightly elevated. However, it was not influenced by the treatment with anti-oxidant. Significance of elevated lipoperoxide to the pathogenesis of this diseases has not solved.
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PMID:[A case of neuronal ceroid-lipofuscinosis (Jansky-Bielshowsky type): morphological, biochemical and electrophysiological studies (author's transl)]. 627 66

We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.
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PMID:Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. 653 55

A 23-year-old man presented with a history characterized by a myoclonic syndrome developing over a period of seven years. Predominant symptoms were intention and activity myoclonus, generalized epileptic seizures occurring infrequently from the age of 20, a slowly progressive cerebellar syndrome first apparent at 19 years, and the sudden onset of loss of visual acuity at 19, which then partially regressed; optic atrophy and clinical and campimetric signs were suggestive of Leber's disease. Intellectual ability was not affected. E.E.G. records showed generalized spike-waves with photosensitivity, progressive reduction in basal rhythm, and sleep organization disturbances with focal abnormalities. Obvious clinical signs of muscle disease were lacking but muscle biopsy confirmed the presence of a mitochondrial myopathy (ragged-red fibers). An indefinite history of familial neurological disease was obtained. Diagnosis was established as myoclonic cerebellar dyssynergy with spastic hereditary ataxia and Leber's disease. Their association with a mitochondrial myopathy has been previously reported by Tsairis et al, Fukuhara et al, Fitzimons et al (familial case), and Niedermeyer et al (sporadic case). In spite of the non-specific nature of associated mitochondrial abnormalities, all these cases would appear to correspond to a single nosological entity.
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PMID:[Spinocerebellar degeneration, optic atrophy, epilepsy, myoclonus and mitochondrial myopathy: a case report (author's transl)]. 681 Apr 37

The clinical features of 11 families containing 73 individuals with dominantly inherited cerebellar ataxia of late onset are described. Many of the patients had physical signs in addition to cerebellar ataxia, which included dementia, supranuclear ophthalmoplegia, extrapyramidal dysfunction, optic atrophy, pigmentary retinal degeneration, myoclonus and deafness. These associated features were generally very variable within members of the same family. Intrafamilial correlation of age of onset and an analysis of clustering of clinical features within families using X2 tests suggested that there was little evidence of genetic heterogeneity in the eight kindreds where ophthalmoplegia, optic atrophy, dementia, or extrapyramidal signs were found in affected individuals. One of these families contained descendants of the 'Drew family of Walworth' described by Ferguson and Critchley in 1929. The three other families contained patients with clinically distinct syndromes which were: cerebellar ataxia with pigmentary retinal degeneration; a later onset (over 60 years) 'pure' cerebellar syndrome; and an ataxia disorder associated with myoclonus and deafness. A simple classification of the autosomal dominant cerebellar ataxias is proposed and discussed in relation to previous attempts to classify these disorders on clinical and pathological grounds.
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PMID:The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. 706 68


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