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)

Glycine receptor (GlyR) antibodies were recently identified in a few patients with progressive encephalomyelitis with rigidity and myoclonus (PERM); none of these patients had antibodies against glutamic acid decarboxylase (GAD). An inhibitory glycinergic transmission defect has also been implicated in the mechanism underlying saccadic oscillations, including ocular flutter or opsoclonus; GlyR antibodies have not been reported in these patients. The purpose was to determine whether GlyR antibodies are found in patients with PERM, ocular flutter syndrome (OFS), and opsoclonus-myoclonus syndrome (OMS). GlyR antibodies were first measured in archived sera and CSF from five patients, including one patient with GAD antibody-positive PERM, two patients with OFS, and two patients with OMS. GlyR antibodies were also measured in archived sera from nine other adult patients with OMS. GlyR antibodies and GAD antibodies were both found at high titers in the serum and CSF of the patient with PERM, and their levels paralleled disease activity over time. GlyR antibodies were not found at significant levels in 13 patients with saccadic oscillations. GlyR and GAD antibodies can co-exist in PERM and follow the clinical course. Although saccadic oscillations are a feature of this condition, GlyR antibodies are not commonly found in patients with isolated saccadic oscillations.
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PMID:Glycine receptor antibodies are detected in progressive encephalomyelitis with rigidity and myoclonus (PERM) but not in saccadic oscillations. 2221 39

Ocular flutter is an eye movement disorder characterized by purely horizontal rapid saccadic oscillations lasting for a few minutes which stops spontaneously. Postinfectious ocular flutter and truncal ataxia are a rare entity. There are reported cases of opsoclonus myoclonus ataxia in association with dengue virus infection. However, there are no reported cases of parainfectious ocular flutter and truncal ataxia in association with dengue virus infection. Hereby, we report a child with dengue fever who had ocular flutter and truncal ataxia.
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PMID:Parainfectious Ocular Flutter and Truncal Ataxia in Association with Dengue Fever. 2855 94

Belly dancer's dyskinesia or diaphragmatic flutter (DF) is a rare condition characterized by repetitive involuntary contractions of the diaphragm. Also known as diaphragmatic myoclonus (DM), this disorder can manifest with involuntary movement of the abdominal wall and contraction of accessory respiratory muscles or respiratory myoclonus. Because of its variable presentation, diagnosis can often be difficult and delayed. This phenomenon is thought to be secondary to abnormal excitation of the phrenic nerve, via the central nervous system or along the nerve.Another possible mechanism is the irritation of the diaphragm itself. Diagnosis can be made with ultrasound, thoracic videofluoroscopy, or electromyography (EMG). Different pharmacologic and surgical therapies have been used in the past, but overall, there are no specific guidelines regarding treatment. In this report, we present a case of DF in a young female patient.
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PMID:Belly Dancer's Dyskinesia: A Rare Condition. 3278


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