Atypical glutaric aciduria type 1 with hemidystonia and asymmetric radiological findings misdiagnosed as an ischemic stroke
Objective: To report on a case of glutaric aciduria type 1 misdiagnosed as an ischemic stroke because of atypical radiological signs and motor phenotype. Background:…Higher self-rated obsessive-compulsion in functional compared with organic dystonia
Objective: To evaluate obsessive-compulsive symptomatology in functional and organic dystonia Background: Case-control studies have reported elevated rates of obsessive-compulsion in genetic (DYT11 and DYT5) and…Sleep and other Non Motor Symptoms in Craniofacial Dystonia
Objective: To prospectively study sleep and other non motor symptoms among patients with craniofacial dystonias. Background: Craniofacial dystonia have been shown to be associated with…Prevalence of Patient-Reported Symptoms of Dysphonia and Dysphagia in Movement Disorder Patients at an Academic Medical Center
Objective: To determine the prevalence of patient-reported quality of life (QOL) measures of dysphonia and dysphagia in movement disorder patients at an academic medical center.…Transient dystonia of infancy: 25 cases
Objective: Characterize a group of pediatric patients with transient dystonia of infancy. Background: Transient dystonia of infancy is a Developmental and Benign Movement Disorder characterized…Atypical presentation in 4 patients of Subacute Sclerosing Pan Encephalitis (SSPE), –widening phenotypic horizon
Objective: To highlight atypical presentation of SSPE and to create high index of awareness about phenotypic spectrum of the disease especially in developing countries. Background:…Acoustical characteristics of speech impairment in Primary Generalized Dystonia
Objective: To describe acoustic features of speech in Primary Generalized Dystonia (PGD) in order to identify potential subtypes of dysarthria, in line with the previous…Glut-1 deficiency: a case report
Objective: To report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency. Background: Although Epilepsy is commonly diagnosed by child…Determinants of health-related quality of life in children and young adults with dystonia
Objective: To systematically investigate to what extent motor and non-motor symptoms were related to health-related quality of life (HR-QoL) in children and young adults with…Phenotype of PLP1-related disorder caused by novel mutation: a case report
Objective: To illustrate phenotype of PLP1-related disorder caused by a novel mutation. Background: Phenotypes of X-linked PLP1-related disorders vary from severe forms of hypomyelinating leukodystrophy-Pelizaeus–Merzbacher…
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