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…MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation
Objective: We describe a case of fever-induced paroxysmal weakness and encephalopathy (FIPWE), also known as relapsing encephalopathy with cerebellar ataxia (RECA) and expand the phenotypic…Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…A case of dystonia-parkinsonism associated with a heterozygous PRKRA (DYT16) gene mutation
Objective: We describe the clinical presentation, diagnosis, and treatment of a case of dystonia-parkinsonism associated with a heterozygous mutation in the initiator methionine of the…A case of Bainbridge-Ropers syndrome in a child.
Objective: This study describe the clinical case of Bainbridge-Ropers syndrome caused by the ASXL3 gene mutation. Background: Bainbridge-Ropers syndrome is an autosomal dominant disorder typically…Late-onset Familial Segmental Dystonia with Novel GNAL Mutation
Objective: Report a unique onset of dystonia in family affected by tremor and segmental dystonia Background: Background: A 66-year-old woman of Norweigan descent presented with…MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS
Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…No pathogenic mutations in HPCA in Chinese dystonia patients
Objective: To explore the frequency and spectrum of HPCA mutation in Chinese subjects with dystonia. Background: Dystonia is known as a group of clinically and etiologically…A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa
Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…
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