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)

The prevalence of periodic limb movements in sleep (PLMS) in a randomly selected elderly sample is reported. In San Diego, 427 elderly volunteers aged 65 yr and over were recorded in their homes. Forty-five percent had a myoclonus index, MI greater than or equal to 5. Correlates of PLMS included dissatisfaction with sleep, sleeping alone and reported kicking at night. Although statistically significant, the strengths of the associations between interview variables and myoclonus indices were all small. No combination of demographic variables and symptoms allowed highly reliable prediction of PLMS.
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PMID:Periodic limb movements in sleep in community-dwelling elderly. 179 81

The Sleep Disorders Clinic at the San Diego Veterans Administration Medical Center provides a diagnostic service within a public hospital. Case records of the first 117 patients receiving polysomnograms in our clinic were reviewed. Of these patients, 44 percent were found to have sleep apnea, 24 percent nocturnal myoclonus and 8 percent narcolepsy. Our experience shows that in a health maintenance organization, a sleep disorders clinic provides diagnostic information (based on a polysomnogram and a sleep history) which is very helpful in the final diagnosis of medical disorders. Very few recordings were noncontributory. In this setting, a sleep disorders clinic is justified by its rich diagnostic yield.
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PMID:Benefits of a sleep disorders clinic in a Veterans Administration Medical Center. 725 75

MERRF is an acronym of myoclonus epilepsy associated with ragged-red fibers and was first reported as a new nosological entity belonging to mitochondrial encephalomyopathies in San Remo symposium on "Mitochondrial Pathology" in 1982. MERRF was named Fukuhara disease by Rowland (1983). The first reported patient had been diagnosed as having Ramsay Hunt syndrome associated with Friedreich's ataxia. However, nowadays, the previously reported cases as having Ramsay Hunt syndrome associated with Friedreich's ataxia are regarded as having been suffered from MERRF. The history in establishing the nosological entity of MERRF was described. Patients with MERRF develop myoclonus, epileptic seizures, cerebellar ataxia, dementia, sensorineural hearing disturbance, optic atrophy, muscular wasting, and foot deformities at the advanced stage. Pathological findings show degeneration of the dentate nuclei, globus pallidus, and red nuclei, substantia nigra, inferior olivary nuclei, cerebellar cortex, and spinal cord. The posterior columns, the spinocerebellar tracts, and Clark's columns are degenerating in the spinal cord. The pyramidal tracts never show a severe degeneration as in Friedreich's ataxia. The skeletal muscles show mitochondrial abnormalities histologically and electron microscopically. Clinical features of MERRF are not necessarily uniform in the early stage and muscle biopsy findings are also very mild in some patients with MERRF, necessitating genetic analysis for diagnosis. Most of patients show a point mutation (A --> G) of nt 8344 in mitochondrial DNA.
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PMID:[Fukuhara disease]. 1823 33

The clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is largely based on the 1998 World Health Organization diagnostic criteria. Unfortunately, rigid compliance with these criteria may result in failure to recognize sporadic CJD (sCJD), especially early in its course when focal findings predominate and traditional red flags are not yet present. A 61-year-old man presented with a 3-week history of epilepsia partialis continua (jerking of the left upper extremity) and a 2-week history of forgetfulness and left hemiparesis; left hemisensory neglect was also detected on admission. Repeated brain magnetic resonance imaging (MRI) showed areas of restricted diffusion in the cerebral cortex, initially on the right but later spreading to the left. Electroence-phalography (EEG) on hospital days 7, 10, and 14 showed right-sided periodic lateralized epileptiform discharges. On day 20, the EEG showed periodic sharp wave complexes leading to a diagnosis of probable sCJD and subsequently to definite sCJD with brain biopsy. Neurological decline was relatively fast with generalized myoclonus and akinetic mutism developing within 7 weeks from the onset of illness. CJD was not immediately recognized because of the patient's focal/lateralized manifestations. Focal/lateralized clinical, EEG, and MRI findings are not uncommon in sCJD and EEG/MRI results may not be diagnostic in the early stages of sCJD. Familiarity with these caveats and with the most current criteria for diagnosing probable sCJD (University of California San Francisco 2007, MRI-CJD Consortium 2009) will enhance the ability to recognize sCJD and implement early safety measures.
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PMID:Sporadic Creutzfeldt-Jakob disease with focal findings: caveats to current diagnostic criteria. 2371 80