Dystonia treatment

Abstract

Objective: To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study. Methods:In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity).Results: Querying the database for the presence of any medication for dystonia used (includes both injectable and oral therapy), we found 73% using medications (n 5 1,488) and 27% using no dystonia medications (n 5 538). Furthermore, 61% of the total sample used botulinum toxin (BoNT) therapy alone or in combination. Differences were found in medication use patterns by dystonia type, with the lowest oral medication use in focal dystonia and highest use in generalized dystonia; by region, with highest BoNT therapy rate reported in Italy and the lowest in the Northeast region of the United States; and by focal dystonia subtype, with highest BoNT therapy alone in blepharospasm and spasmodic dysphonia (49%) and lowest in other cranial dystonia (32%). Conclusions:The majority of patients with dystonia enrolled in the Dystonia Coalition Project 1 were using medications to treat their dystonia. Overall, a complex picture of medication use patterns emerged, with factors such as region, disease duration, type of dystonia, disease severity, and psychiatric comorbidities all playing a significant role. Neurology ® 2017;88:543-550 GLOSSARYBoNT 5 botulinum toxin; DBS 5 deep brain stimulation; GDRS 5 Global Dystonia Rating Scale.Although botulinum toxin (BoNT) injections are the gold standard therapy for patients with focal dystonia, oral medications such as anticholinergics and GABAergic classes are typically recommended in published treatment reviews on dystonia.1 We currently do not know the range or type of oral medications actually used in patients with dystonia (alone or combined with BoNT).In a study performed as an online survey, most patients (86%) with a self-reported diagnosis of cervical dystonia had used BoNT, and the majority of patients (53%) also reported oral medication for their dystonia symptoms.2 This study supports that many patients with dystonia use oral medications, but we do not know the type or class of medication used in this population.We conducted a cross-sectional study in an international cohort to better characterize and understand medication use in the dystonia population. This study provides an opportunity to explore the potential therapeutic gap in the treatment of dystonia and whether this gap might differ among the subtypes of dystonia, requiring a precision medicine approach.

A novel therapeutic agent, sodium oxybate, improves dystonic symptoms via reduced network-wide activity

“…A recent study in a large series of patients with different forms of isolated dystonia reported that only 56.6% of LD patients receive botulinum toxin treatment 4 , implying that nearly a half of LD population remain untreated. Symptoms of DTv are known to respond even less well to botulinum toxin 38 .…”

“…At present, the treatment of focal dystonia with or without tremor is directed to temporary symptom management with botulinum toxin injections into the affected muscles. However, this empirical treatment is beneficial for only a fraction of dystonic patients, showing inconsistent benefits across different forms of dystonia 2 – 4 . Other pharmacological therapies, particularly the therapeutic options that would modulate the pathophysiology of focal dystonia and dystonic tremor, are not existent.…”

Whole‐exome sequencing for variant discovery in blepharospasm

“…The molecular and cellular mechanisms underlying BSP and other anatomical distributions of isolated dystonia remain fragmentary. Accordingly, treatments for BSP are entirely symptomatic (Pirio Richardson et al, 2017). Most commonly, BSP patients are treated with injections of botulinum toxin although, in some series, almost 50% report minimal improvement, no improvement or worsening of BSP after injections of botulinum toxins (Fernandez et al, 2014).…”

Morphotypological Prevalence of Individuals Assessed by the Method of Global Postural Reeducation by Proprioceptive and Muscular Rebalancing (GPR/PMR)

“…This method has been used in the urinary incontinence treatment [29,30], as well as in the neurological field, in the cervical dystonia treatment [31], stroke [32], and Parkinson's disease [33,34], were observed in the following variables: head anteriorized (96%); flexion dorsal (78%); anterior shoulders (>80%); abducted scapula (67%); and right and left foot valgus (54%, Figure 2).…”

“…This method has been used in the urinary incontinence treatment [29,30], as well as in the neurological field, in the cervical dystonia treatment [31], stroke [32], and Parkinson's disease [33,34], since its use may promote changes in the motor potential evoked spinal and supraspinal [10]. Finally, in the cardiopulmonary scope, pieces of evidence have been presented in the cardiovascular system response [35]; and in the chronic obstructive pulmonary disease treatment [36], since it has been observed an improvement in respiratory muscle strength and an increase in thoracic cavity mobility after the technique application [37].…”