Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…Prevelance,clinical pathology and Treatment of Dystonia in Pakistani Population
Objective: Evaluate the gender,mean age,clinical spectrum and non–motor symptoms of the disease in Pakistan,a developing country of South East Asia. Background: Dystonia,a neurological syndrome,is characterized…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…Self-assessed psychological symptoms, fatigue and depersonalization in dystonia
Objective: To assess depressive, anxiety, fatigue and dissociative symptoms in patients with dystonia. Background: The basal ganglia, once considered exclusively concerned with motor control, are…Sensory trick phenomenon in cervical dystonia: a functional MRI study
Objective: This study investigates the patterns of brain functional MRI (fMRI) during resting-state (RS) with and without sensory trick (ST) and during the ST imagination…Pattern and Predictors Of Tremor In Patients With Primary Dystonia
Objective: To assess the frequency, location and predictors of tremor in Indian patients with primary dystonia. Background: Tremor is now recognized to be a frequent…Voice Cepstral Analysis in Adductor-Type Spasmodic Dysphonia
Objective: To investigate differences in voice parameters between patients affected by adductor-type spasmodic dysphonia (ASD) and Healthy subjects (HS). Background: Adductor-type spasmodic dysphonia (ASD) is…Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…
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