Genetic Predictors in Dystonia: A Phenotypic Analysis.
Objective: To identify clinical predictors of genetic positivity in dystonia and to develop a phenotype-based predictive score to guide genetic testing. Background: Dystonia is a…Exploring the variability in spoken language comprehension, speech and functional communication in children with GNAO1-associated disorder: a case series
Objective: To investigate spoken language comprehension (SLC), speech and functional communication in GNAO1-associated disorder (GNAO1-AD). Background: GNAO1-AD is ultra-rare and clinically heterogeneous. Often, children with…Re-emerging and Emerging Tremor with Postural Changes in Tremor in Dystonia
Objective: To describe the neurophysiological characteristics of re-emerging or emerging tremor in patients with tremor in dystonia (DT) and compare them with typical PD re-emerging…A Novel Clinical Protocol for Monitoring Therapeutic Outcomes in Camptocormia in Parkinson´s Disease
Objective: To present a case study using a novel protocol evaluating postural, pain, and respiratory outcome in PD-related camptocormia before and after treatment. Background: Camptocormia…“Coder’s Cramp”: A Case Series of Task- Specific Typing Dystonia
Objective: We present a case series of task-specific dystonia that occurs exclusively when typing in three software engineers. Background: Task-specific dystonia refers to abnormal involuntary contraction of muscles only during a particular motor task. Focal hand dystonia related to one’s occupation can…Hyperkinetic Movement Disorder as the First Manifestation of Gaucher Disease Type 3
Objective: Gaucher disease, an autosomal recessive lysosomal storage disorder, is caused by a deficiency of the enzyme glucocerebrosidase. This results in the accumulation of glucosylceramide…Regional Brain Volumes and Network Alterations During Task-Based fMRI in Writer’s Cramp: A Comparison with Healthy Controls
Objective: To compare regional brain volumes using voxel-based morphometry (VBM) and brain network patterns during imagined writing (IW) and actual writing (WT) using task based…Nutritional Assessment in X-linked Dystonia Parkinsonism: Preliminary Results from a Pilot Study
Objective: This pilot study aims to evaluate the nutritional status of XDP patients using anthropometric measurements and nutritional assessment tools, and to determine the prevalence…Adolescent-onset Myoclonus Dystonia in MT-ND6 m.14487T>C–Associated Leigh Syndrome
Objective: To describe the clinical and genetic features of an adolescent patient with MT-ND6-associated Leigh syndrome presenting with a prominent dystonia and myoclonus. Background: Leigh…Late-onset THAP-1 with SCA8 expansion mimicking functional movement disorder, case report.
Objective: - Background: Functional movement disorders (FMD) are characterized by abnormal movements without an identifiable neurological cause. Diagnosis and management of patients with FMD can…
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