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)

Functional movement disorders (FMD) represent a complex and disabling entity characterized by a broad range of clinical symptoms not explained by a classical neurological disease. In 2013, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) added a clinical criterion based on incongruence and inconsistency, supported by recent literature highlighting the role of "positive clinical signs". These clinical signs allow a "rule-in" procedure in making a diagnosis of FMD so that the diagnosis is no longer a "rule-out" or "by default" diagnosis made after exclusion of other neurological conditions. This review summarizes current evidence on common clinical features and highlights bedside signs in FMD, such as tremor, dystonia, myoclonus and parkinsonism. Tics, chorea and hemiballism are also briefly discussed.
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PMID:Functional movement disorders. 3160 37

Enteroviruses (EVs) are responsible for extremely large-scale, periodic epidemics in pediatric cohorts, particularly in East and Southeast Asia. Clinical presentation includes a diverse disease spectrum, including hand-foot and mouth disease (HFMD), aseptic meningitis, encephalitis, acute flaccid paralysis, and acute flaccid myelitis. HFMD is predominantly attributable to EV-A types, including the major pathogen EV-A71, and coxsackieviruses, particularly CV-A6, CV-A16, and CV-A10. There have been multiple EV-A71 outbreaks associated with a profound burden of neurological disease and fatal outcomes in Asia since the early 1980s. Efficacious vaccines against EV-A71 have been developed in China but widespread pediatric vaccination programs have not been introduced in other countries. Encephalitis, as a consequence of complications arising from HFMD infection, leads to damage to the thalamus and medulla oblongata. Studies in Vietnam suggest that myoclonus is a significant indicator of central nervous system (CNS) complications in EV-A71-associated HFMD cases. Rapid response in HFMD cases in children is imperative to prevent the progression to a CNS infection; however, prophylactic and therapeutic agents have not been well established internationally, therefore surveillance and functional studies including development of antivirals and multivalent vaccines is critically important to reduce disease burden in pediatric populations.
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PMID:Enterovirus-Associated Hand-Foot and Mouth Disease and Neurological Complications in Japan and the Rest of the World. 3163 98

Purpose: Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disease that can be associated with autoimmunity, paraneoplastic tumour, infection or unknown aetiology.Methods: We describe a 54-year-old woman who developed severe OMS, with the clinical onset occurring 2 months and 15 days after she experienced dizziness, vomiting and fever related to a herpes simplex virus infection. The patient was treated with hormones and clonazepam, and the symptoms of myoclonus and ataxia disappeared.Results: The patient was followed up for 1 year with no recurrence of symptoms.Conclusions: The case suggests that herpes simplex virus infection is a possible cause of OMS.
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PMID:Opsoclonus-myoclonus syndrome associated with herpes simplex virus infection: a case report. 3211 82

Cognitive and acquired neurodevelopmental deficits have been reported in children with opsoclonus-myoclonus syndrome (OMS) and are known to be associated with more severe and relapsing disease course. However, there is a paucity of data regarding cognitive dysfunction in children with stable neurological disease. We report three children with OMS and evolving cognitive dysfunction in the context of a mild disease course. The children's ages at disease onset were between 17 and 35 months and they were followed up for 4-10 years. Neuroblastoma was identified in one child. OMS severity scores ranged between 8 and 12/15 at presentation. They underwent immunotherapy and all were in remission by 7 months (range 4-13 months), with treatment maintained for 1 year. One child remained relapse-free, while two others had one clinical relapse each and were immunotherapy-responsive again. In all cases, evolving cognitive dysfunction was reported despite being in remission and stable off treatment for a median of 20 months (range of 12-31 months; two OMS scores of 0/15 and one of 2/15). In children with OMS who have completed treatment and have made full or near full neurological recovery, concerns remain regarding long-term outcome in terms of future learning and cognitive development.
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PMID:Evolving Cognitive Dysfunction in Children with Neurologically Stable Opsoclonus-Myoclonus Syndrome. 3282 25

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is part of the variant type of the Stiff Person Syndrome (SPS) and is a rare neurological disease. We report here a patient with PERM who had thymoma and was positive for anti-glutamic acid decarboxylase (anti-GAD) antibodies. Her symptoms improved after treatment with hormones and gamma globulin. We also summarized the literature review of patients with PERM accompanied by tumors reported.
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PMID:Progressive Encephalomyelitis With Rigidity and Myoclonus With Thymoma: A Case Report and Literature Review. 3307 29

The genetic combined dystonias are a clinically and genetically heterogeneous group of neurologic disorders defined by the overlap of dystonia and other movement disorders such as parkinsonism or myoclonus. The number of genes associated with combined dystonia syndromes has been increasing due to the wider recognition of clinical features and broader use of genetic testing. Nevertheless, these diseases are still rare and represent only a small subgroup among all dystonias. Dopa-responsive dystonia (DYT/PARK-GCH1), rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3), X-linked dystonia-parkinsonism (XDP, DYT/PARK-TAF1), and young-onset dystonia-parkinsonism (DYT/PARK-PRKRA) are monogenic combined dystonias accompanied by parkinsonian features. Meanwhile, MYC/DYT-SGCE and MYC/DYT-KCTD17 are characterized by dystonia in combination with myoclonus. In the past, common molecular pathways between these syndromes were the center of interest. Although the encoded proteins rather affect diverse cellular functions, recent neurophysiological evidence suggests similarities in the underlying mechanism in a subset. This review summarizes recent developments in the combined dystonias, focusing on clinico-genetic features and neurophysiologic findings. Disease-modifying therapies remain unavailable to date; an overview of symptomatic therapies for these disorders is also presented.
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PMID:Combined dystonias: clinical and genetic updates. 3309 85


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