Social determinants of health and health-related quality of life in individuals with isolated dystonia [0.03%]
孤立性肌张力不全个体的健康和社会决定因素及与健康相关的生活质量
Caroline Nelson,Christopher D Stephen,Ellen B Penney et al.
Caroline Nelson et al.
Background and objectives: Dystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the hea...
Pain localization and response to botulinum toxin in cervical dystonia [0.03%]
颈部肌张力障碍的疼痛定位及肉毒杆菌毒素治疗反应
Alexander S Wang,Hanieh Agharazi,Aetan Parmar et al.
Alexander S Wang et al.
Introduction: Pain is a common symptom of cervical dystonia (CD). The mainstay of treatment of CD is botulinum toxin, which is known to have benefits in relieving pain. We aimed to characterize the locations of pain in pa...
Neurorehabilitation in Dystonia Care: Key Questions of Who Benefits, What Modalities, and When to Intervene [0.03%]
扭转痉挛护理中的神经康复：受益人群、干预模式和介入时机的关键问题
Hikaru Kamo,Koichi Nagaki,Alison R Kraus et al.
Hikaru Kamo et al.
Dystonia causes involuntary, patterned movements and posturing, often leading to disability, pain, and reduced quality-of-life. Despite standard treatments such as botulinum toxin (BoNT) injections, oral medications, and deep brain stimulat...
Pattamon Panyakaew,Aparna Wagle Shukla
Pattamon Panyakaew
Clinical and physiological characteristics of tremor in a large cohort of focal and segmental dystonia [0.03%]
特发性节段性肌张力障碍和局灶性肌张力障碍患者的震颤临床及生理特征分析：一项大样本队列研究
Zakia Jabarkheel,Aparna Wagle Shukla
Zakia Jabarkheel
Objective: Tremor is a frequent co-occurring feature in patients with dystonia, especially in focal and segmental dystonia. Clinical studies have shown that tremor is more commonly observed when dystonia spreads to contig...
R Z Adury,B J Wilkes,P Girdhar et al.
R Z Adury et al.
DYT1 dystonia is an early onset, generalized form of isolated dystonia characterized by sustained involuntary muscle co-contraction, leading to abnormal movements and postures. It is the most common hereditary form of primary dystonia, caus...
Case Report: Bilateral globus pallidum internus DBS for treating tremor and dystonia in spinocerebellar ataxia 17: a thirteen-year follow-up [0.03%]
个例报告：脑深部电刺激双侧苍白球中间核治疗脊小脑性共济失调17型的震颤和肌张力障碍：十三年随访
Aparna Wagle Shukla,Shilpa Chitnis,Irene A Malaty et al.
Aparna Wagle Shukla et al.
Background: Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant trinucleotide disorder. There are no effective therapies for addressing the clinical symptoms of SCA17. ...
Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation [0.03%]
病例报告：THAP1基因突变患者的舌肌张力不全症状通过肉毒杆菌毒素治疗改善
Aparna Wagle Shukla,Nicole Herndon,Irene Malaty
Aparna Wagle Shukla
Background: THAP1 mutation dystonia is a known genetic cause of generalized dystonia. THAP1 mutation frequently presents with clinical features of bulbar dysfunction, including oromandibular and lingual dystonia. Patients...
Aparna Wagle Shukla,Anjela Gurrala,Vinata Vedam-Mai
Aparna Wagle Shukla
Background: Previous studies have found gait and balance abnormalities in patients with cervical dystonia. However, the characteristics of gait and balance in cervical dystonia with head tremors have not been ascertained....
Subtle changes in Purkinje cell firing in Purkinje cell-specific Dyt1 ΔGAG knock-in mice [0.03%]
Purkinje细胞特异性Dyt1 ΔGAG敲入小鼠中Purkinje细胞放电的微小变化
Hong Xing,Pallavi Girdhar,Yuning Liu et al.
Hong Xing et al.
DYT1 dystonia is an inherited early-onset generalized dystonia characterized by sustained muscle contractions causing abnormal, repetitive movements or postures. Most DYT1 patients have a heterozygous trinucleotide GAG deletion (ΔGAG) in D...