Dystonic Storm Research Articles

Clinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study.

Status dystonicus (SD) is a life-threatening movement disorder emergency characterized by increasingly frequent and severe episodes of generalized dystonia, requiring urgent hospital admission. The diverse clinico-etiological spectrum, high risk of recurrence, and residual disabilities complicate functional outcomes. We aim to describe the clinico-etiological spectrum, radiology, therapeutic options, and follow-up of patients with pre-status dystonicus (pre-SD) and SD. A cross-sectional retrospective study was carried out in a tertiary care referral center. The clinical, laboratory, and radiology data of all patients aged less than 18 years with pre-SD and SD from January 2010 to December 2020 were collected. The Dystonia Severity Assessment Plan (DSAP) scale for grading severity and the modified Rankin Scale (mRS) for assessing outcome were used at the last follow-up visit. Twenty-eight patients (male:female: 2.1:1) experiencing 33 episodes of acute dystonia exacerbation were identified. The median age at the onset of dystonia and SD presentation was 8.71 (range: 0.25-15.75) and 9.12 (range: 1-16.75) years, respectively. Four patients experienced more than one episode of SD. The etiological spectrum of SD includes metabolic (Wilson's disease-13, L-aromatic amino acid decarboxylase deficiency-one, and Gaucher's disease-one), genetic (neurodegeneration with brain iron accumulation-three and KMT2B and THAP 1 gene-related-one each), structural-three, post-encephalitic sequelae (PES)-four, and immune-mediated (anti-NMDA receptor encephalitis-one). Five patients had pre-SD (DSAP grade 3), and 23 patients had established SD (DSAP grade 4-17 and DSAP grade 5-six). The Rapid escalation of chelation therapy precipitated SD in 11 patients with Wilson's disease. Febrile illness or pneumonia precipitated SD in nine patients. Twenty-three episodes of SD required midazolam infusion in addition to anti-dystonic medications. The median duration of hospital stay was 10 days (range: 3-29). Twenty-three patients had resolution of SD but residual dystonia persisted, while two patients had no residual dystonia at follow-up. Three patients succumbed owing to refractory SD and its complications. Early identification of triggers, etiology, and appropriate management are essential to calm the dystonic storm.

Neuromodulation With DBS as a Rescue Strategy in Life-Threatening Paediatric Dystonic Storm

Dystonic storm is a life-threatening condition that can cause rhabdomyolysis, respiratory failure and has a high mortality rate (10-15%). It occurs in primary or secondary dystonia and can be triggered by infection, drug withdrawal or a surgical procedure. Patients have severe dystonic muscle contractions and require hospitalization with an escalation of treatment including medically induced coma. Rarely, all medical treatment fail and surgery is indicated.

DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1

IntroductionPatients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases.Case descriptionWe report on a 16-year-old girl with a variant in the GNAO1 gene (c.626G > T; p.(Arg209Leu)) who was admitted to the intensive care unit with medically refractory dystonic storm with secondary complications inducing rhabdomyolysis and acute colitis. Emergency pallidal DBS resulted in rapid improvement of dystonic storm and the subsidence of rhabdomyolysis and colitis. There were no further episodes of dystonic storm during follow-up of 2 years.ConclusionPallidal DBS is a useful treatment option for GNAO1-related dystonic storm with secondary complications which can be performed as an emergency surgery.

Adrenocorticotropic hormone induced status dystonicus: Caution advised

Dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contraction causing repetitive twisting movements and abnormal postures. The localization of dystonia is dysfunctional interactions of basal ganglia, cerebellum, thalamus, cerebral cortex and brainstem. Status dystonicus, or dystonic storm, is a life threatening emergency marked by development of increasingly frequent or continuous severe episodes of generalized dystonic spasms. The etiology of status dystonicus has not been clearly.

Pantothenate kinase-associated neurodegeneration (Hallerworden–Spatze disease): clinical aspects, diagnosis, treatment (literature review and own data)

Aim. To analyze current data of scientific literature on the etiology, pathogenesis, approaches to the diagnosis and treatment of rare orphan disease – pantothenate kinase-associated neurodegeneration and to describe the clinical case of this disease. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare inherited autosomal recessive disorder caused by mutations in the PANK2 gene, which is located at the chromosomal locus: 20p13-p12.3. The article presents a literature review and a case report of the diagnosis and treatment of 8-year-old girl with pantothenate kinase-associated neurodegeneration who suffered from progressive motor impairment. Among the dominant clinical manifestations is a growing extrapyramidal motor disorder, the so-called “dystonic storm”, which can range from severe sensorimotor motor deficits in infants and young children to mild parkinsonism in adults. MRI signs in the form of specific changes in the T2-weighted mode, which detects typical areas of hyperintensive signal in globus pallidus, surrounded by a border of hypointensive signal (“tiger’s eye”) are particular important. Neuroimaging data most likely make possible to suspect a correct diagnosis, reducing the time and cost of additional examinations. There is no pathogenetic treatment of this disease now. The main directions of currently available symptomatic drug therapy are described. Clinical trials of detoxifying drugs that reduce iron levels in the body (chelation) and surgical treatments are currently underway. Conclusions. The presented clinical observation once again confirms the complexity of the diagnostic search for orphan diseases of the nervous system. A key place in the diagnosis of pantothenate kinase-associated neurodegeneration belongs to the neuroimaging methods and molecular genetic testing data.

Status Dystonicus in Children with Secondary Dystonia: Reporting 3 Cases of Cerebral Palsy, Leigh Disease and Molybodynum Co Factor Deficiency

Objective: Patients with primary and secondary dystonic syndromes occasionally develop severe episodes of generalized dystonia and rigidity which is known as status dystonicus (SD) or dystonic storm. This is a frightening hyperkinetic movement disorder and it is an emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission in the hospital. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder as it may lead to metabolic complications such as rhabdomyolysis, leading to acute renal failure. This paper has been written to describe three cases of SD, all having secondary dystonia with different etiologies to highlight the mode of presentation, diagnosis, treatment and outcome.
 Methodology: We report 3 cases of severe secondary dystonia culminating in SD necessitating management in hospital setting. All the three cases were admitted in a tertiary care hospital and evaluated.
 Results: One patient was treated in intensive care unit. In brief 1st case was a 5 year boy with dyskinetic CP who was treated with trihexiphenidyl (THP), baclofen and midazolam infusion. Second case was a 15 month old boy, diagnosed case of mitochondrial encephalopathy (Leigh disease) who was treated with THP, baclofen, haloperidol, clonazepam and infusion midazolam. The third case was a 13 month old boy, diagnosed case of Molybdenum Cofactor deficiency who was treated with THP, tizanidine but they refused to take midazolam.
 Conclusion: In this case series, three cases with SD with different etiology have been described with clinical features, modalities of treatment and outcome.

Pediatric Dystonic Storm: A Hospital-Based Study.

Pediatric dystonic storm is an underrecognized entity. We aimed to evaluate the profiles of children presenting with dystonic storm in a referral hospital. Management schema and treatment responsiveness of this uncommonly reported entity were analyzed. Retrospective review of all children (up to 18 years) hospitalized with dystonic storm over 39 months in the aforementioned facility. Twenty-three children whose ages ranged from 2 years 2 months to 14 years 4 months years (median: 6 years 11 months) (males: 13, females: 11) presented with dystonic storm. The annual incidence was 0.4 per 1,000 fresh admissions with an event rate of 0.9 per 1,000 for all admissions. All had Dystonia Severity Action Plan grades 4/5 with identifiable trigger in 13 (50%). Underlying dystonic disorder preexisted in 10 (43.4%); 8 of these had cerebral palsy. Polypharmacotherapy with >4 drugs out of trihexyphenidyl, tetrabenazine, clonazepam, gabapentin, levodopa-carbidopa, trichlorophos, and melatonin was needed. Supportive care and adequate sedation helped in symptom control. All children were managed with midazolam infusion over 2-10 days (median: 5 days). Mechanical ventilation was resorted to in 6 children (3-22 days). Vecuronium and propofol were used in 3/23 (13%) and 4/23 (17%) children, respectively. Deep brain stimulation was curative in 1 child. Hospitalization ranged from 5 to 31 (median: 11) days. Although there were no deaths, rhabdomyolysis was noted in 1 child. Postdischarge, 6 (26%) children relapsed. Dystonic storm is a medical emergency mandating aggressive multimodal management. Supportive care, antidystonic drugs, and early elective ventilation alongside adequate sedation with benzodiazepines ameliorate complications. Relapses of dystonic storm are not uncommon.

Status Dystonicus

Background: Status Dystonicus (SD) or Dystonic Storm is a rare, serious life-threatening situation that is generally resistant to traditional pharmacological treatment. Trauma, surgery, infection and withdrawal of some medications like lithium, tetrabenazine, and clonazepam may trigger SD. We present a female patient who underwent Deep Brain Stimulation (DBS) operation at the age of 15 and was admitted to our hospital at the age of 21 with SD.

Letter: Evaluation and Surgical Treatment of Functional Neurosurgery Patients With Implanted Deep Brain Stimulation and Vagus Nerve Stimulation Pulse Generators During the COVID-19 Pandemic.

Author(s): Gross, Robert E; Buetefisch, Cathrin M; Miocinovic, Svjetlana; Bullinger, Katie L; Okun, Michael S; Ostrem, Jill L; Foote, Kelly D; Starr, Phillip A

Deep brain stimulation versus pallidotomy for status dystonicus: a single-center case series.

First-line pharmacological therapies have shown limited efficacy in status dystonicus (SD), while surgery is increasingly reported as remediable in refractory cases. In this context, there is no evidence regarding which neurosurgical approach is the safest and most effective. The aim of this study was to assess the clinical outcomes and surgery-related complications of globus pallidus internus deep brain stimulation (GPi DBS) and pallidotomy for the treatment of drug-resistant SD. The authors reviewed the records of patients with drug-resistant SD who had undergone GPi DBS or pallidotomy at their institution between 2003 and 2017. The severity of the dystonia was evaluated using the Barry-Albright Dystonia (BAD) Scale. Surgical procedures were performed bilaterally in all cases. Fourteen patients were eligible for inclusion in the study. After surgery, the mean follow-up was 40.6 ± 30 months. DBS ended the dystonic storm in 87.5% of cases (7/8), while pallidotomy had a success rate of 83.3% (5/6). No significant differences were observed between the two techniques in terms of failure rates (risk difference DBS vs pallidotomy -0.03, 95% CI -0.36 to 0.30), SD mean resolution time (DBS 34.8 ± 19 days, pallidotomy 21.8 ± 20.2 days, p > 0.05), or BAD scores at each postoperative follow-up (p > 0.05). The long-term hardware complication rate after DBS was 37.5%, whereas no surgery-related complications were noted following pallidotomy. The study data suggest that DBS and pallidotomy are equally safe and effective therapies for drug-resistant SD. The choice between the two techniques should be tailored on a case-by-case basis, depending on factors such as the etiology and evolution pattern of the underlying dystonia and the clinical conditions at the moment of SD onset. Given the limitation of the low statistical power of this study, further multicentric investigations are needed to confirm its findings.

Acute Presentation of Nonmotor Symptoms in Parkinson's Disease.

There are a few syndromes involving the nonmotor symptoms of Parkinson's disease and other movement disorders that can quickly lead to severe morbidity and mortality, and, as such, need rapid identification and management. Among these are neuroleptic malignant syndrome, serotonin syndrome, dopamine agonist withdrawal syndrome, and dystonic storm. It is important to maintain a high index of suspicion for these disorders as lack of identification can lead to death. Many of these acutely occurring nonmotor syndromes are primarily the result of imbalances in dopaminergic and serotonergic systems due to changes in pharmacologic management of psychiatric disorders or Parkinson's disease. We discuss these acutely occurring nonmotor symptoms in order to raise awareness and also to highlight how these extremes in symptoms may uniquely shed light on the pathophysiology of Parkinson's disease.

Treatment of movement disorder emergencies.

Movement disorder emergencies are defined as clinical scenarios where a movement disorder develops over hours to days, and in which morbidity and even mortality can result from failure to appropriately diagnose and manage the patient. The last decade has seen increasing recognition of various movement disorder emergencies, including acute parkinsonism, neuroleptic malignant syndrome, respiratory compromise in multiple system atrophy, dystonic storm, oculogyric crisis, and hemiballism, among others. This article will review the major movement disorder emergencies encountered in the hospital and office, emphasizing practical management and treatment.

Status Dystonicus Following Deep Brain Stimulation Surgery in DYT1 Dystonia Patients (P01.227)

Objective: We describe a case series of patients who experienced status dystonicus (SD), also known as dystonic storm, following deep brain stimulation (DBS) surgery to implant or remove electrodes in the globus pallidus pars interna (GPi). Background SD is a rare complication of primary and secondary dystonia characterized by acute and severe worsening of dystonic movements, often to the point where it is considered a life-threatening emergency. Of approximately 50 cases described in the literature, 14 used DBS as an acute treatment, whereas one case reported SD arising after lead explantation. To our knowledge, SD following DBS implantation has not yet been described. Design/Methods: Medical records of DBS surgeries for dystonia were reviewed, with criteria being 1) clear documentation of SD event and 2) level of severity requiring critical-care support or the presence of end organ involvement. Demographic data collected included age, ethnicity, duration of disease, DYT1 status and BFMDRS scores. The severity and course of each episode were tracked by the duration of ICU admission, IV sedation requirements, mechanical ventilation, as well as abnormal CK, liver, or renal failure. Results: We found six episodes of SD across 3 patients. Presumed causes included: 1) surgical stress from the DBS lead implantation (n=3); 2) sudden cessation of stimulation (n=2) or baclofen pump function (n=1). The duration of these episodes ranged from 3 to 29 days in the ICU with a similar duration of continuous IV sedation requirements. All patients recovered to their baseline dystonia severity, with early initiation of pallidal stimulation in 4 of 6 episodes. Conclusions: These cases suggest that stereotactic implantation or sudden removal of DBS electrodes may trigger SD. While early DBS activation may improve and expedite SD outcomes, it is important to closely monitor patients post-operatively for unexpected deterioration of symptoms, including SD in extreme cases. Supported by: Dr. Cheung has received travel support from Dystonia Coalition grant #NS067501. Disclosure: Dr. Cheung has received research support from Medtronic, Inc. Dr. Flatow has nothing to disclose. Dr. Ben-Haim has nothing to disclose. Dr. Osborn has nothing to disclose. Dr. Cho has nothing to disclose. Dr. Tagliati has received personal compensation for activities with Medtronic Ipsen, Merz and St.Jude as a speaker, consultant and participant on an advisory board. Dr. Alterman received personal compensation for activities with Medtronic, Inc. Dr. Alterman has received research support from Ceregene, Inc and ANS.

Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation

Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Pallidal deep brain stimulation in a 5 years old child with dystonic storm: case report

A 5-year-old child had a medical history of epilepsy and a newly presented mental retardation with a life-threatening dystonic storm. Neuroimagings showed bilateral calcification of the pallidum. Several treatment modalities were performed, but the symptoms showed no significant improvement. The patient was operated on in order to place a deep brain stimulation (DBS) targeting bilateral globus pallidum internus (GPi). The dystonia showed a remarkable improvement after surgery, with 81% reduction of dystonia severity after 15 months. To our best knowledge, this is the youngest patient mentioned in the literature to be treated with DBS, which was also life-saving in this case.

Status dystonicus: A rare complication of dystonia

A severe episode of dystonia refractory to standard drug therapy has been labeled as status dystonicus or dystonic storm. We report the development of this complication in a 10-year old boy with idiopathic torsion dystonia, the probable precipitating factor being either an infection or introduction of clonazepam.

Dystonic storm due to Batten's disease treated with pallidotomy and deep brain stimulation

To report a novel treatment approach, pallidotomy and deep brain stimulation (DBS), in two sisters with dystonic storm due to Batten's disease. This study is based on long-term follow-up of two sisters, presenting with dystonic storm and their response to pallidotomy and DBS. These sisters, who had visual loss, seizures, and progressive psychomotor decline, experienced progressive disabling abnormal movements culminating in dystonic storm at the age of 15 and 17 years, respectively. In addition to intubation and sedation, multiple medications, including botulinum toxin injections and intrathecal baclofen infusion were tried in both patients without any benefit. The old sister underwent bilateral pallidotomy. Within 10 days postoperatively, there was marked improvement in dystonic storm. She was free of abnormal movements for 9 months. Then she started having opisthotonus lasting 20 seconds to an hour several times/day, but over 6 years abnormal movements are markedly improved, and not returned to pre-pallidotomy level. The young sister underwent both bilateral pallidotomy and DBS, 3 weeks apart. She was free of abnormal movements for 7 months and able to maintain reduction in the abnormal movements by adjusting DBS settings. Pallidotomy and DBS should be considered in dystonic storm due to Batten's disease.