Genetically proven Juvenile-Onset Niemann–Pick Disease Type C Presenting with Dystonia- Ataxia syndrome.
Objective: We present a case Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome. Background: Niemann–Pick disease type C…Basal Ganglia Germinoma (BGG) Presenting as Hemidystonia
Objective: We describe an unusual case of progressive right-sided hemidystonia with accompanying imaging and video. Background: Intracranial germinomas most often arise from midline structures, but…Characterizing Movement Disorders in Niemann-Pick Disease Type C -A Registry-Based Analysis with Findings from the International Niemann-Pick-Disease Registry (INPDR)
Objective: We aim to define the prevalence and phenotypic spectrum of movement disorders in Niemann-Pick Disease Type C (NPC), track motor and functional progression using…Dystonia parkinsonism revealing CV2 positive autoimmune encephalitis
Objective: To report a case of CV2-positive autoimmune encephalitis presenting as dystonia–parkinsonism, underscoring the need to consider autoimmune etiologies in atypical dystonic syndromes. Background: Autoimmune…Rethinking the Divide: Are Cervical Dystonia and Myofascial Pain Two Sides of the Same Coin?
Objective: To compare cervical dystonia (CD) and cervical myofascial pain syndrome (cMPS) and evaluate whether these conditions represent distinct disorders or points along a shared…Basal ganglia and cerebellum involvement in Myelin Oligodendrocyte antibody associated disease (MOGAD) presenting with facial Dystonia and limb Tremer
Objective: Movement disorder in MOGAD is rarely reported in literature. Here we report a case of female with facial dystonia and tremor a rare manifestation.…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…The Role of the Immune System in Dystonia: Insights from HLA genotyping
Objective: To characterize the association between Human Leukocyte Antigen (HLA) alleles and dystonia. Background: Dystonia is widely recognized to have great etiologic heterogeneity. A complex…Paroxysmal Post-Traumatic Dystonia in Patients with Whiplash and Mild Traumatic Brain Injuries
Objective: To study the dystonic symptoms in patients with mild traumatic brain injury (mTBI) and whiplash injuries with or without compensation claims. Background: Dystonia may…Pontine Hemorrhage leading to Bilateral Olivary Degeneration and Cervical Dystonia
Objective: We describe a case of a 66-year-old woman who developed cervical dystonia with dystonic tremor and hypertrophic olivary degeneration (HOD) after a right pontine…
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