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)

To re-evaluate the diagnostic criteria for early myoclonic encephalopathy (EME), the following study was done. During the past 2 years, five patients with erratic, fragmentary myoclonus of neonatal onset, in association with other types of seizures, were analyzed with regard to etiologies, electroclinical features and their evolution, using a series of examinations including electroencephalographies (EEGs) and metabolic investigations. Of these five patients, three were diagnosed to have non-ketotic hyperglycinemia (NKH); one was pyridoxine-dependent; the other was cryptogenic. Only two cases (one NKH and one cryptogenic) had initial typical suppression-burst (S-B) EEG pattern, which subsequently evolved into multiple paroxysmal abnormalities with random asynchronous attenuation (MP-AA) pattern. The other two cases with NKH had MP-AA EEG pattern throughout both awake and sleep recordings in two consecutive EEG studies. All three cases with NKH survived with increasing microcephaly, muscle tonicity; all developed infantile spasm with hypsarrhythmia on EEGs. The patient with pyridoxine-dependency had an initial MP-AA EEG pattern, which converted into S-B pattern after the first use of pyridoxine, eventually becoming normal after a supplement with the second-dose of pyridoxine. In conclusion, either S-B or MP-AA pattern may reflect the severity of the underlying pathologies or the disease stages. These results suggest that, from both etiological and electroclinical viewpoints, EME may represent a broader spectrum than previously recognized. The still ongoing controversy regarding whether the S-B pattern should be recognized as the sole EEG criteria for the diagnosis of EME needs further experience to clarify.
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PMID:The controversy regarding diagnostic criteria for early myoclonic encephalopathy. 984 Jun 74

Early epileptic encephalopathy with suppression burst (SB) comprises two distinct epileptic syndromes, early infantile epileptic encephalopathy (EIEE) and early myoclonic encephalopathy (EME). We reviewed etiologies, neurological outcome and clinico-electroencephalographic features of EIEE and EME. Chart records of early epileptic encephalopathy with SB from January 1997 to December 2000 were reviewed. These cases fulfilled the diagnostic criteria of EIEE and EME. Totally eight patients (four females, four males) were enrolled. They consisted of three cases of EIEE and five cases of EME. The follow-up periods ranged from 6 to 30 months. For EIEE, two cases had migrational disorders, and one was cryptogenic; for EME, three cases had non-ketotic hyperglycinemia (NKH), one was pyridoxine dependency and one was cryptogenic. The main initial seizure patterns were tonic spasms in EIEE, and were erratic myoclonus in EME. The age of seizure onset ranged from 26 h to 5 days after birth for EIEE, and 2 h to 7 days of life for EME. The SB pattern in the electroencephalography (EEG) was noted mainly during sleep state in EME, but in both awake and sleep states in EIEE. Asymmetric SB pattern and background activities in EEG were found in migrational disorders. The EEG in all cases of EIEE changed to hypsarrhythmia at 4-6 months of age. In EME, only the EEG in cases of NKH evolved to hypsarrhythmia. Response to anti-convulsants was generally poor. All had severe psychomotor retardation. Although EIEE and EME share several common features, differences in terms of seizure seminology and evolution, EEG patterns and etiologies still exist.
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PMID:Early epileptic encephalopathy with suppression burst electroencephalographic pattern--an analysis of eight Taiwanese patients. 1170 Dec 84

Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, time of onset before 3 months of age, and suppression-burst (SB) pattern in EEG are accepted as the diagnostic criteria for EME. We report a 40-day-old infant with the diagnosis of non-ketotic hyperglycinemia (NKHG). The infant developed myoclonic and focal tonic seizures on the first day of life. His first sleep EEG recorded after onset of seizure was normal. Because of the diagnosis of NKHG and early developed myoclonic seizure, we thought the infant might be EME, and repeated sleep EEG on admission in which asymmetrical SB pattern was seen. We concluded that the absence of SB pattern in the first EEG recording does not exclude the diagnosis of EME, but repetition of EEG is necessary to demonstrate the presence of SB pattern to meet the diagnostic criteria for EME.
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PMID:Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. 1601 70

Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia.
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PMID:Early myoclonic encephalopathy. 1981 26

Non ketotic hyperglycinemia is a rare inborn error of glycine metabolism due to deficient activity of glycine cleavage system, a multienzymatic complex consisting of four protein subunits: the P-protein, the H-protein, the T-protein and the L-protein. The neonatal form of non ketotic hyperglycinemia presents in the first days of life with encephalopathy, seizures, multifocal myoclonus and characteristic "hiccups". Rapid progression may lead to intractable seizures, coma and respiratory failure requiring mechanical ventilation. Clinical trial with scavenges drugs decreasing glycine levels such as sodium benzoate, and with drugs reducing NMDA receptors excitatory properties, such as ketamine and dextromethorphan, have been tried but the outcome is usually poor; antiepileptic therapy, moreover, is unable to control epileptic seizures. Ketogenic diet has been successfully tried for refractory epilepsy in pediatric patients. We report three cases affected by neonatal non ketotic hyperglycinemia and early myoclonic encephalopathy treated with ketogenic diet. In our patients ketogenic diet, in association with standard pharmacological therapy, determined dramatic reduction of seizures and improved quality of life.
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PMID:Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. 2226 Oct 77