A novel homozygous mutation in PANK2 gene mutation in a South- Asian male with typical PKAN
Objective: To study the clinical course, imaging and genetics in a case of early onset generalized dystonia with suspected Neurodegeneration with Brain Iron Accumulation (NBIA).…Atypical presentation of Pantothenate Kinase-Associated Neurodegeneration in two siblings with a PANK-2 gene mutation: A case report and literature review.
Objective: To describe the cases of two siblings diagnosed with Pantothenate Kinase-Associated Neurodegeneration (PKAN) with mutations in the PANK2 gene. Background: PKAN is part of…The Diagnostic Dilemma in ATP7B Heterozygosity
Objective: We aim to address the uncertainties surrounding the genotype-phenotype correlation in ATP7B pathogenic mutations, particularly with a focus on heterozygous carriers, challenging the traditionally…Atypical Onset and Presentation of Rare DYT30-VPS16 Dystonia
Objective: To provide a description of a young patient with atypical onset and presentation of rare DYT30-VPS16 dystonia. Background: To date, 44 patients from 31…A Case of SGCE Myoclonus-Dystonia diagnosed in a 70-Year-Old Male
Objective: N/A Background: SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by myoclonus and dystonia, primarily affecting the neck, trunk, and upper limbs. Patients may…Rare DYT23 Dystonia, First Diagnosed Case in Ukraine
Objective: To provide a description of a patient with rare DYT23 dystonia. Background: DYT23 type dystonia is characterized by adult-onset, focal cervical dystonia typically manifesting…Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…The Trembling Descent: Down the Stairs Dystonia in Galactosemia
Objective: To describe a unique case of multifocal dystonia in a young adult with classic galactosemia, emphasizing clinical presentation, progression, and management. Background: Classic galactosemia…Insights into Myoclonus Dystonia from an Indian movement disorder clinic
Objective: To describe the clinical profile, etiology and treatment profile of myoclonus dystonia patients attending a single movement disorder clinic. Background: Myoclonus-dystonia (MD) is a…
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