Musician's focal dystonia is a motor dysfunction that appears in artists after years of repetitive and fine movements during performance. This is the condition most feared by musicians because it leads to difficulties in controlling movements, which can interrupt or terminate their careers. It is characterized by the onset of involuntary muscle contractions and movements; its distinguishing feature is that it only occurs during a specific and well-defined action. It is rarely diagnosed because those who experience it do not seek medical attention for fear or shame, but also because many physicians do not consider the disease in the differential diagnosis of motor dysfunction. We describe the case of a guitarist who presented to our outpatient clinic after many years of experiencing musician's focal dystonia. He reported a long list of misdiagnoses and a variety of unsuccessful treatments.Musician's focal dystonia is an under-diagnosed condition. Treatment benefit is limited despite recent innovative approaches. Rheumatologist should be aware of this condition.
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http://dx.doi.org/10.1097/01.rhu.0000182194.80366.49 | DOI Listing |
Sci Data
January 2025
Department of Radiology, China-Japan Friendship Hospital, Beijing, China.
The sharing of multimodal magnetic resonance imaging (MRI) data is of utmost importance in the field, as it enables a deeper understanding of facial nerve-related pathologies. However, there is a significant lack of multi-modal neuroimaging databases specifically focused on these conditions, which hampers our comprehensive knowledge of the neural foundations of facial paralysis. To address this critical gap and propel advancements in this area, we have released the Multimodal Neuroimaging Dataset of Meige Syndrome, Facial Paralysis, and Healthy Controls (MND-MFHC).
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
Actas Esp Psiquiatr
January 2025
Centro Universitário Investigação em Psicologia (CUIP) Universidade do Algarve, 8005-139 Faro, Portugal; Departamento de Psicologia e Ciências da Educação, Faculdade de Ciências Humanas e Sociais, Universidade do Algarve, 8005-139 Faro, Portugal.
Background: Mental contamination (MC) refers to feelings of internal filthiness associated with contamination obsessions. Ego-dystonic memories and thoughts can trigger MC, although it can also be activated by trauma, which is associated with the onset of post-traumatic stress disorder (PTSD). Research shows that MC, negative emotions and PTSD can occur simultaneously.
View Article and Find Full Text PDFNeurocrit Care
January 2025
Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
Background: Neuroleptic malignant syndrome (NMS) is a psychiatric-neurologic emergency that may require intensive care management. There is a paucity of information about NMS as a critical illness. We reviewed the Mayo Clinic experience.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology and Institute of Neurology, Ruijin Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China.
Background: Bilateral deep brain stimulation (DBS) of subthalamic nucleus (STN) has demonstrated efficacy for ameliorating medication-refractory isolated dystonia. Nonetheless, the paucity of evidence regarding its long-term impact on quality-of-life (QoL) necessitates further investigation.
Objectives: This study aimed to elucidate the longitudinal effects of chronic STN stimulation on QoL in patients suffering from isolated dystonia.
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