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"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option".
[BACKGROUND] Klinefelter syndrome (KS) is associated with tremor and dystonia, but the exact phenomenology and neurophysiology are not well described. [CASE REPORT] We present a case of a 51-year-old married male who presented with segment…
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Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
[BACKGROUND] Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are…
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Sternalis Syndrome Misidentified by Multiple Specialties Responding to Botox Treatment: A Case Report and Literature Review.
When a clinician, especially one who is specialized in primary care is faced with presenting complaints of deep, sharp, anterior chest pain, the most common differential diagnoses include cardiac and gastrointestinal pain. Musculoskeletal p…
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Aesthetic Surgery Gone Wrong: A Case Report and Literature Review of Acute Kidney Injury Secondary to Hematoma After Liposuction.
Liposuction is a widely used cosmetic surgery that involves the removal of excess fatty tissue. Although it is generally considered a safe and effective procedure, complications can arise. Acute kidney injury (AKI) is a serious complication…
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Botulinum Toxin: An Update on Pharmacology and Newer Products in Development.
Since its introduction as a treatment for strabismus, botulinum toxin (BoNT) has had a phenomenal journey and is now recommended as first-line treatment for focal dystonia, despite short-term clinical benefits and the risks of adverse effec…
- Botulinum Toxin Injection in Truncal Dystonia: Time to Take Note.
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Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment.
Patients with Parkinson's disease and focal dystonia have difficulty in generating and preventing movement. Reaction time (RT) and stop signal reaction time (SSRT) measure the speed to initiate and stop a movement respectively. We developed…