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)

Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a degenerative disease involving dentate nuclei of the cerebellum, globus pallidus, the posterior columns and spinocerebellar tracts of the spinal cord, and skeletal muscles. Abnormal mitochondria were observed in the cells of the cerebellar cortex and of the dentate nuclei. The main symptoms of this disease include cerebellar ataxia and myoclonus in addition to muscular wasting. Patients with MELAS occasionally have myoclonus, but they never have myoclonus as their initial symptoms. Most of the patients with both clinical features of MERRF and MELAS were regarded as belonging to the category of MELAS.
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PMID:MERRF: a clinicopathological study. Relationships between myoclonus epilepsies and mitochondrial myopathies. 196 54

Subacute sclerosing panencephalitis (SSPE) is a rare central nervous system degenerative disease that occurs primarily in children and adolescents. It is believed to be caused by a measles-like virus. Initial symptoms usually present as a variety of personality changes followed by myoclonus with progression of mental and motor deterioration, which leads to death within a few months to years. New experimental treatment with inosiplex has been shown to be helpful for patients stricken with this progressive neurological disease. A response to inosiplex therapy is best in patients with a slowly progressing form of the disease. Inosiplex treatment is safe with few adverse effects. The duration of treatment appears to be lifelong since many patients relapse when inosiplex therapy is discontinued. This article reviews the etiology, pathogenesis, and experimental treatment of SSPE.
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PMID:Treatment of subacute sclerosing panencephalitis: an overview. 620 74

Creutzfeldt-Jakob disease (CJD) is a degenerative disease of the brain associated with a rapidly progressive spongiform encephalopathy. Visual symptoms and neuro-ophthalmological signs are not infrequent, and presentation to an ophthalmologist may result. A case is reported of an 89-years-old gentleman who presented with a short history of isolated deterioration in vision. He underwent ocular intervention but subsequently developed progressive dementia, asterixis, myoclonus, cerebellar and extrapyramidal signs, and cortical blindness. An electroencephalogram was consistent with CJD. The patient progressively deteriorated and died 9 weeks after symptom onset. Limited post-mortem examination confirmed CJD.
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PMID:Vision loss due to coincident ocular and central causes in a patient with Heidenhain variant Creutzfeldt-Jakob disease. 1806 77

Subacute sclerosing panencephalitis is a devastating progressive degenerative disease of the nervous system presumably caused by a persistent measles virus. Patients commonly present with myoclonia or encephalopathy. There are currently no known curative therapeutic options or effective symptomatic therapy. We treated a 12-year-old boy with subacute sclerosing panencephalitis who presented with acute encephalopathy and myoclonus. Electroencephalogram showed characteristic generalized periodic discharges. Levetiracetam produced dramatic improvement in both myoclonus and encephalopathy. The improvement was clear within 4 days. The electroencephalogram pattern showed improvement as well. Levetiracetam is a promising symptomatic therapy in subacute sclerosing panencephalitis for both the myoclonus and the encephalopathy. In this patient, it also appeared to improve the electroencephalographic pattern. We suggest that the generalized periodic discharges associated with the myoclonus contributed to the patient's encephalopathy.
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PMID:Successful treatment of encephalopathy and myoclonus with levetiracetam in a case of subacute sclerosing panencephalitis. 1915 68

Neuroserpin encephalopathy is an autosomal-dominant degenerative disease associated with mutations in the Proteinase Inhibitor 12 (PI12) gene. A 26-year-old male presented with progressive myoclonus epilepsy and declining mental status. He had failed in university studies because of impaired attention, memory and concentration. Generalized seizures started to occur approximately once a month, and he developed myoclonus and progressive gait disturbances. Neuroimaging revealed mild atrophy and multiple periventricular white matter lesions, consistent with demyelination. He progressively declined and died at age 34. Neuropathologic examination revealed widespread involvement of the cerebral cortex by numerous round eosinophilic inclusions in neuronal perikarya and neuropil, predominantly within the deep cortical layers. Numerous inclusions were also found in the basal ganglia, thalamus, hippocampus, brain stem, spinal gray matter, and dorsal root ganglia. They were essentially absent from the cerebellum. The inclusions were immunopositive for antibodies raised against neuroserpin. The white matter lesions showed histologic features compatible with multiple sclerosis. Genetic analysis revealed a nucleotide substitution in codon 47 in one allele of the PI12 gene, resulting in a proline for leucine amino acid substitution (L47P). In summary, we report a case of neuroserpin encephalopathy associated with a novel PI12 mutation and complicated by coexistent multiple sclerosis.
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PMID:Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. 2143 71

Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements of one or more parts of the body. Diseases with dystonia have been classified by Fahn et al. (1998) into primary dystonia, dystonia-plus syndrome, degenerative disease, secondary dystonia, and paroxysmal dystonia. Other diseases with dystonia excluding secondary dystonia correspond to hereditary dystonia. DYT1, a primary dystonia, is well known as early-onset torsion dystonia with dominantly inherited generalized dystonia caused by a GAG deletion in the TOR1A gene located at 9q34.11. We encountered the cases of twelve patients with DYT1. The mean onset age was 9.1 (3.0) years and the initial symptoms were dystonia of the lower legs in 11 patients and cervical dystonia in one patient. Six patients in four families had a family history of dystonia and the other six patients had no family history. The phenotypes of the 12 patients were classified into four groups: characteristic generalized dystonia in eight patients, generalized dystonia with deformities and amyotrophy of the legs in two patients, segmental dystonia in one patient and truncal myoclonus in one patient. The penetration of DYT1 gene in Japan is low and the symptoms in the early-onset patients are variable.
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PMID:[Hereditary dystonia -- phenotype of DYT1]. 2319 19