Background: Although head tremor (HT) and pain are prevalent in cervical dystonia (CD), their joint relationship to phenotypic features of focal dystonia remains unclear.
Objectives: We examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ("jerky" or "regular") exhibit distinct relationships between severity of HT and pain.
Methods: The severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition.
Results: HT severity was associated with longer CD duration (p < 0.0005), whereas pain severity was associated with younger age at onset (p = 0.043). HT severity and pain severity were not correlated for jerky HT (p = 0.996), but positively correlated for regular HT (p = 0.01).
Conclusions: The distinct associations of HT and pain with age at onset, disease duration, and HT subtype further characterize the heterogeneity of CD's clinical presentation and suggest similarly heterogeneous underlying mechanisms.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076053 | PMC |
http://dx.doi.org/10.1007/s00415-020-10378-5 | DOI Listing |
Hum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFMov Disord Clin Pract
January 2025
Division of Neurology University of Toronto, Movement Disorder Clinic, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFJ Neurosurg
December 2024
Departments of1Neurology.
Objective: Pharmacoresistant tremors, often seen in Parkinson disease and essential tremor, significantly impair patient quality of life. Although deep brain stimulation has been effective, its invasive nature limits its applicability. MR-guided focused ultrasound (MRgFUS) thalamotomy offers a noninvasive alternative, but its cognitive impacts are not fully understood.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
December 2024
IAB - Interdisciplinary Working Group for Movement Disorders, Hamburg, Germany.
Spasmodic dysphonia (SD) is now generally considered to be a task-specific focal dystonia. For the first time, we wanted to explore the relationship between SD and dystonia from a combined neurological and phoniatric perspective. For this, we studied 115 patients with non-psychogenic SD by a combined neurological and phoniatric evaluation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!