Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program
Objective: To develop an algorithm for identifying patients with cerebrotendinous xanthomatosis (CTX) in a cohort of individuals with neurodegenerative disorders. Background: CTX is a rare…Pain Assessment in Cervical Dystonia: Insights from the PIDS and Dystonia-PCS Scales
Objective: To assess pain in patients with cervical dystonia using Pain in Dystonia Scale (PIDS) and Dystonia-Pain Classification System (Dystonia-PCS). Background: Dystonia is a heterogeneous…The Alien Hand Syndrome in a Young Woman with Ischemic Stroke
Objective: Alien hand Syndrome (AHS) is a rare neurological disorder characterized by involuntary, seemingly purposeful movements of a limb, coupled with a sense of disownership.…Temporomandibular Joint Balancing Therapy for Cervical Dystonia: A Retrospective Study
Objective: Cervical dystonia lacks disease-modifying treatment, with therapies mainly providing symptom relief. Temporomandibular Joint Balancing Therapy (TBT) addresses TMJ-related postural issues and may improve symptoms.…Unusual presentation of POLR3A-associated leukodystrophy – two cases reported
Objective: Presentation of two patients with different clinical manifestations of a POLR3A-related leukodystrophy (NM_007055.4) Background: POLR3A related leukodystrophy is an autosomal recessive disease caused by…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…Radiographic Resolution without Clinical Improvement in Anti-Ri Rhombencephalitis
Objective: To report a case of Anti-Ri Rhombencephalitis presenting with subacute ophthalmoplegia, jaw dystonia, and gait ataxia with minimal clinical improvement despite radiographic resolution after…Updates on Perception of Patients with Cervical Dystonia in Residents and Medical Students
Objective: To determine if an educational intervention can reduce external stigma of patients with cervical dystonia (CD) in medical trainees. Background: Medical trainees may or…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…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…
- « Previous Page
- 1
- …
- 9
- 10
- 11
- 12
- 13
- …
- 54
- Next Page »