RDP is associated with bulbar and limb weakness: broadening the phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP)
Objective: To describe a new finding of weakness associated with RDP. Background: RDP is caused by mutations of the ATP1A3 gene. The phenotype of RDP…Genotype-phenotype relations for the isolated Dystonia Genes TOR1A, THAP1, GNAL, ANO3, KMT2B, PRKRA and HPCA: MDSGene Systematic Review
Objective: To systematically review genotypes and phenotypes of monogenic isolated dystonia. Background: The Movement Disorder Society Genetic mutation database (MDSGene at www.mdsgene.org) provides an overview…Neuromuscular electrical stimulation for the treatment of jaw-closing dystonia
Objective: To measure whether neuromuscular electrical stimulation (NMES) increases jaw-opening distance and improves quality-of-life in jaw-closing dystonia patients. Background: An index case with progressive supranuclear…A protocol to probe the mechanisms underlying disordered sub-cortical processing in cervical dystonia using emotional faces.
Objective: Probing the mechanisms underlying disordered sub-cortical processing in the pathogenesis of the non-motor symptoms of cervical dystonia (CD) is of great clinical importance. We…Non-motor symptoms in Myoclonus-Dystonia: a comparison to other dystonia subtypes
Objective: Systematically study NMS in M-D in direct comparison to other types of dystonia and healthy controls. Background: Myoclonus-dystonia (M-D) due to a SGCE mutation…OnabotulinumtoxinA treatment in adults with spasticity reduces caregiver burden: Results from the ASPIRE study
Objective: To examine the impact of onabotulinumtoxinA treatment in adult patients with spasticity on caregiver burden over 2 years from the Adult Spasticity International Registry…Tic Detector – Role of Electromyography
Objective: To use surface electromyography (EMG) to detect and characterize motor tics. Background: Tourette syndrome is a complex neuropsychiatric disorder characterized by a combination of…Adult-onset neuronal intranuclear inclusion disease presenting with intractable resting and intention tremor
Objective: To report a rare case of neuronal intranuclear inclusion disease (NIID) presenting with intractable resting and intention tremor. Background: The NIID is a slowly…Age of onset and diagnosis of Essential Tremor
Objective: This study was designed to determine the relationship between age of onset and age at clinical diagnosis of Essential Tremor (ET). Background: ET is the most…Spiral loop width differentiates essential tremor and dystonic tremor
Objective: To identify variables that can distinguish essential tremor from dystonic tremor using automated analysis of hand drawn Archimedes spirals. Background: Spiral drawings using pen-on-paper…
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