Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia
Objective: To foster trial-readiness, we delineate the full phenotypic spectrum and provide piloting longitudinal natural progression data of POLR3A-associated spastic ataxia in a large international cohort.…Comparison in Therapeutic Outcome of Ultrasound-Guided Botulinum Injections for Limb Spasticity Versus Dystonia
Objective: To compare the therapeutic efficacy of BT injections for spasticity and dystonia in the limbs. Background: Botulinum toxin (BT) shows promise in alleviating limb…The Clinical and Genetic Characteristics of HSP Patients by WES Sequencing Combined with MLPA
Objective: We aim to clarify the phenotype and gene spectrum of hereditary spastic paraplegia (HSP) and improve the molecular diagnosis. Background: Next-generation sequencing-based molecular assessment…Clinical and Genetic Characteristics in a Chinese Cohort of Complex Spastic Paraplegia Type 4
Objective: To delineate the genotypic and phenotypic spectrum of patients with complex SPG4 phenotype and further explore genotype-phenotype correlations. Background: Spastic paraplegia type 4 (SPG4),…Feasibility and Comprehensibility of the SMD Decision Tree for Early Recognition of Spasticity
Objective: The comprehensibility, feasibility, and appraisal of the Spastic Movement Disorders Decision Tree (SMD-DT) was assessed by qualitative analysis of study feedback collected from raters…Pathways for diagnosis and multimodal management, including botulinum neurotoxin therapy, in shoulder conditions following central lesions
Objective: To build on existing publications and give guidance for healthcare providers managing shoulder conditions following central lesions, including how to identify, diagnose, and treat…Social Media Listening Study to Understand the Journey and Unmet Needs of Patients Living With PSS
Objective: To employ social media listening to uncover insights into poststroke spasticity (PSS) patient experiences, unmet needs, and impact on quality of life. Background: PSS…A Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Region
Objective: To systematically review existing literature and collect data on Hereditary Spastic Paraplegias(HSP) in the Middle East and North Africa(MENA), aiming to assess the prevalence…Ultrasound Assessment of Collagen Content in Contracted and Non-contracted Muscle Areas: A Comparative Study
Objective: The objective of this study was to evaluate the feasibility and reliability of ultrasound imaging as a method to estimate collagen content in contracted…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…
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