DHDDS and NUS1: A converging pathway and common phenotype
Objective: To report on the clinical spectrum of variants affecting dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate Synthase 1 (NUS1) and particularly to highlight their…A Man Who Has Been Presenting with Pruritus and Myoclonus
Objective: While various neurological symptoms of sparganosis including have been reported, this is the first documented instance in which sparganosis presented with myoclonus. Background: Sparganosis…Non-myoclonic Subacute Sclerosing Pan Encephalitis in Adulthood
Objective: We report a case of subacute sclerosing panencephalitis (SSPE) presenting after a long latency without the usual clinical clues that aid in diagnosis. Background:…Hyperkinetic movement disorder following Covid: A Temporal corelation or Coincidental ?
Objective: Hypokinetic movement disorder and parkinsonian like picture has been well described in literature but hyperkinetic movements are extremely rare and less highlighted in global…Towards a Machine Learning Based Classification System for Hyperkinetic Movement Disorders: Generating a Neurophysiological Feature Set
Objective: Generating a set of significant neurophysiological features to build a machine learning based diagnostic system for hyperkinetic movement disorders. Background: Hyperkinetic movement disorders cause…Secondary generalized myoclonus resulting from brainstem ischemic lesion
Objective: To report the case of a patient who developed generalized myoclonus revealing ischemic lesions of the brainstem Background: Myoclonus is a movement disorder defined…Progressive ataxia and palatal tremor due to a novel heterozygous GRIN2A mutation
Objective: Describe the case of a patient with adult-onset progressive ataxia and palatal tremor (PAPT) in association with a novel heterozygous mutation of the GRIN2A…New-onset movement disorders in patients with COVID-19 from two centers in Western India
Objective: To study the frequency and characteristics of movement disorders in patients with COVID-19 at two tertiary-care hospitals in Western India. Background: As of March…Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.
Objective: To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases…Gabapentin-induced severe myoclonus in a patient with impaired renal function
Objective: The aim of this study was to present myoclonus as a reversible side effect of gabapentin in order to bring this trend to clinician’s…
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