From syndrome to genetics: Genetic Etiologies of Dystonia with Anarthria/Aphonia
Objective: This study provides a comprehensive list of genetic causes in a large cohort of 53 pediatric and adult patients with dystonia and anarthria or…Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy: From Dystonia to Myotonia
Objective: To evaluate whether these symptoms, previously categorized as dystonic, might represent manifestations of a temperature-sensitive channelopathy with myotonic features [1]. Background: We report two…Diagnostic yield of commercial genetic testing for dystonia in a Canadian movement disorders cohort
Objective: This study aimed to assess the diagnostic yield of commercially available genetic panels in dystonia patients and how test performance varies across dystonia subtypes.…A Dance with Sydenham, it’s Never Too Late to Tango
Objective: Sydenham’s Chorea (SC) is a predominantly female childhood disorder characterized by irregular, fluid-like, involuntary movements. Here we present a case of isolated Sydenham’s chorea…Semantic Memory Deficit as a Potential Risk Factor of Dementia in Isolated Rapid Eye Movement Sleep Behavior Disorder
Objective: We aimed to evaluate semantic memory (SM) performance in isolated/idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) and identify the specific profile of…Novel DCC Variant Identified to Cause Congenital Mirror Movements
Objective: To describe a case of lifelong motor incoordination, mirror movements, and possible dystonia caused by a novel likely pathogenic variant in the DCC gene.…The Importance of a Through Serum Evaluation and Genetic Testing to Avoid Delays in Diagnosis of Chorea-acanthocytosis: A Case Report
Objective: To emphasize the importance of a thorough serum evaluation and genetic testing for new onset chorea to avoid delays in diagnosis of chorea acanthocytosis.…Shaking, Not Stirred: An Atypical Case of Propriospinal Myoclonus
Objective: To describe a rare presentation of propriospinal myoclonus (PSM) restricted to upper cervical segments and discuss the diagnostic challenge posed by its overlap with…Case Report: Painful Limb and Moving Fingers Syndrome
Objective: N/A Background: Painless/painful limb and moving fingers (PLMF) is a variant of painful limbs and moving extremities, a rare movement disorder. Underlying pathophysiology can…Uremic Striatopallidal Syndrome Manifesting As Acute Onset Chorea
Objective: The relationship between movement disorders and renal diseases is complex and multifaceted. Movement disorders can occur as manifestations of azotemia (uremic encephalopathy, uremic striatopallidal…
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