Surgical treatment of myoclonus dystonia syndrome

Rughani, Anand I.; Lozano, Andrés M.

doi:10.1002/mds.25326

Cited by 84 publications

(63 citation statements)

References 31 publications

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“…The stimulation parameters are typically the same as for PD, although some patients may also respond to lower frequencies. There is growing evidence supporting the use of GPi DBS for the treatment of tardive dystonia or myoclonus dystonia [244][245][246][247][248][249][250][251][252][253][254]. Lesser and inconsistent benefit is seen in dystonia secondary to structural brain damage [255].…”

Section: Use Of Dbs For Dystoniamentioning

confidence: 99%

Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

2016

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Deep brain stimulation (DBS) is highly effective for both hypo-and hyperkinetic movement disorders of basal ganglia origin. The clinical use of DBS is, in part, empiric, based on the experience with prior surgical ablative therapies for these disorders, and, in part, driven by scientific discoveries made decades ago. In this review, we consider anatomical and functional concepts of the basal ganglia relevant to our understanding of DBS mechanisms, as well as our current understanding of the pathophysiology of two of the most commonly DBS-treated conditions, Parkinson's disease and dystonia. Finally, we discuss the proposed mechanism(s) of action of DBS in restoring function in patients with movement disorders. The signs and symptoms of the various disorders appear to result from signature disordered activity in the basal ganglia output, which disrupts the activity in thalamocortical and brainstem networks. The available evidence suggests that the effects of DBS are strongly dependent on targeting sensorimotor portions of specific nodes of the basal gangliathalamocortical motor circuit, that is, the subthalamic nucleus and the internal segment of the globus pallidus. There is little evidence to suggest that DBS in patients with movement disorders restores normal basal ganglia functions (e.g., their role in movement or reinforcement learning). Instead, it appears that high-frequency DBS replaces the abnormal basal ganglia output with a more tolerable pattern, which helps to restore the functionality of downstream networks.

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Section: Use Of Dbs For Dystoniamentioning

confidence: 99%

Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

2016

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“…Sodium oxybate has serious side effects, including respiratory suppression, so caution is warranted [38]. Deep brain stimulation of the thalamus or globus pallidus has had success in case reports and awaits confirmation in a larger number of patients [56].…”

Section: Myoclonus-dystonia Syndromementioning

confidence: 99%

Treatment of Myoclonus

Caviness

2014

Neurotherapeutics

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Myoclonus creates significant disability for patients. This symptom or sign can have many different etiologies, presentations, and pathophysiological mechanisms. A thorough evaluation for the myoclonus etiology is critical for developing a treatment strategy. The best etiological classification scheme is a modified version from that proposed by Marsden et al. in 1982. Clinical neurophysiology, as assessed by electromyography and electroencephalography, can be used to classify the pathophysiology of the myoclonus using a neurophysiology classification scheme. If the etiology of the myoclonus cannot be reversed or treated, then symptomatic treatment of the myoclonus itself may be warranted. Unfortunately, there are few controlled studies for myoclonus treatments. The treatment strategy for the myoclonus is best derived from the neurophysiology classification scheme categories: 1) cortical, 2) cortical-subcortical, 3) subcorticalnonsegmental, 4) segmental, and 5) peripheral. A cortical physiology classification is most common. Levetiracetam is suggested as first-line treatment for cortical myoclonus, but valproic acid and clonazepam are commonly used. Corticalsubcortical myoclonus is the physiology demonstrated by myoclonic seizures, such as in primary epileptic myoclonus (e.g., juvenile myoclonic epilepsy). Valproic acid has demonstrated efficacy in such epileptic syndromes with other medications providing an adjunctive role. Clonazepam is used for subcortical-nonsegmental myoclonus, but other treatments, depending on the syndrome, have been used for this physiological type of myoclonus. Segmental myoclonus is difficult to treat, but clonazepam and botulinum toxin are used. Botulinum toxin is used for focal examples of peripheral myoclonus. Myoclonus treatment is commonly not effective and/or limited by side effects.

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“…The positive responses of both myoclonus and dystonia to GPi-DBS and tetrabenazine suggest that abnormal striatal signaling may be involved in the pathophysiology of M-D. A recent literature review of 40 published neurosurgically-treated cases of M-D found that improvements in myoclonus and dystonia were similar for GPi-DBS and VIM-DBS whereas improvements in dystonia were greater with GPi-DBS than VIM-DBS [4]. Compatible with these clinical findings, significantly higher levels of striatal dopamine and its metabolites were found in a knockout mouse model of M-D [9].…”

Section: Discussionmentioning

confidence: 99%

“…Myoclonus and, to a lesser degree, dystonia characteristically improve with consumption of alcohol which, in some patients, contributes to the development of alcohol dependence. More severe cases of M-D, refractory to nonsurgical treatment, may benefit from deep brain stimulation (DBS) of the internal segment of the globus pallidus (GPi) and/or ventral intermediate thalamic nucleus (VIM) [4]. …”

Section: Introductionmentioning

confidence: 99%

Treatment of myoclonus-dystonia syndrome with tetrabenazine

Luciano

Jinnah

Pfeiffer

et al. 2014

Parkinsonism & Related Disorders

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Background Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy. Methods Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine. Results Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained for years. Conclusions A therapeutic trial of tetrabenazine should be considered in patients with M-D, especially before consideration of deep brain stimulation. An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D.

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Surgical treatment of myoclonus dystonia syndrome

Cited by 84 publications

References 31 publications

Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

Treatment of Myoclonus

Treatment of myoclonus-dystonia syndrome with tetrabenazine

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