Unusual Movement Disorder Research Articles

NeuroLab 2.0: An Alternative Storyline Design Approach for Translating a Research-Based Summer Experience into an Advanced STEM+M Curriculum Unit that Supports Three-Dimensional Teaching and Learning in the Classroom.

In this case study, we describe an alternative storyline design approach that we adopted to translate an informal, out-of-school summer science experience with a strong emphasis on developmental neuroscience and data literacy into a more inclusive, replicable, and scalable experience for formal high school science instruction. Combining elements of problem- and project-based learning, a storyline is a curriculum model that engages students in the application of investigative science and engineering practices to incrementally build conceptual models that explain an observable (anchoring) phenomenon. Published reports on the storyline design process describe procedures and tools that are well suited to the creation of novel instructional units. However, these design methods are difficult to apply to projects aimed at translating pre-existing science experiences and resources into classroom storyline units. In this descriptive case study, we discuss a series of alternative design procedures that we utilized to achieve this adaptation. Our overarching project goal was to create the resources necessary to engage high school students in the construction of a multidimensional explanatory model for an unusual movement disorder that assimilates converging lines of behavioral, neuroanatomical, neurophysiological, molecular genetic, developmental, and cellular data. The methods described in this case study establish a design template for other biomedical scientists who are interested in adopting a storyline approach to bring aspects of their work or educational projects into science classrooms and into closer alignment with a new vision for science teaching and learning articulated in the National Research Council's A Framework for K-12 Science Education and the Next Generation Science Standards.

Diaphragmatic Flutter: An Unusual Sign of Multifarious Etiologic Entities.

Diaphragmatic flutter (DF) is an unusual movement disorder with involuntary and repetitive contractions of the diaphragm with or without other abdominal muscle involvement. The disorder is known to occur across all ages including newborns. The etiology is diverse and so are the therapeutic options. Reaching an etiological diagnosis is considerably delayed. Response to therapy is variable and is governed by the underlying etiology. We describe three children with diaphragmatic flutter. The etiology was diverse with unrelated pathologies such as hypocalcemia, striatal necrosis, and idiopathic. All three children responded promptly and completely to calcium, high dose thiamine and biotin, and clonazepam, respectively. Our case series underscores the importance of clinical identification of such rare movement disorders. It also emphasizes that directed etiological evaluation may lead to successful amelioration of DF which is otherwise considered refractory to therapy.

William F. Hoyt and the Neuro-Ophthalmology of Superior Oblique Myokymia and Ocular Neuromyotonia

The contributions of William F. Hoyt, MD, to the field of neuro-ophthalmology are immense. His precision in history-taking and examination skills provided the foundation to fully understand a clinical disorder-determining its underlying pathophysiology, prognosis, and management. We describe two unusual eye movement disorders, superior oblique myokymia and ocular neuromyotonia, and how Dr. Hoyt's contributions shaped our understanding of these clinical entities.

Repetitive Arm and Hand Movements (Complex Motor Stereotypy) in a Six-Year Boy

AbstractAbnormal movements are not uncommon in children. Most of these abnormal movements can be defined by the available criteria. Abnormal movements are easily diagnosed in adults. Most of these abnormal movements are well categorized and diagnosed by the defined characteristics. Sometimes it is difficult to diagnose an unusual movement disorder in children, particularly if it is rare and there are no investigations to prove the diagnosis. Repetitive arm and hand movements (complex motor stereotypy) is one such disorder which is rare and difficult to diagnose unless seen before. In this case report, we described a 6-year-old boy with this disorder, in whom it took 6 years to diagnose.

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa

<strong>Background:</strong> Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent response to carbamazepine treatment. It has been described in various populations, but not yet in an African population. <strong>Case report:</strong> In a patient who reported to clinic with side effects of carbamazepine, <em>PRRT2</em> gene screening was performed based on a clinical history compatible with PKD. A common PRRT2 mutation was identified in this patient, hereby the first genetically confirmed PRRT2-associated PKD in Africa. <strong>Discussion:</strong> Reporting genetic confirmation of an unusual movement disorder from an equally unusual location shows the wide geographical distribution of PRRT2-associated disease. It also illustrates recognizability of this treatable disorder where the easiest accessible diagnostic tool is neurological history and examination.

Unusual lingual-mandibular continuous myoclonus

Lingual-mandibular myoclonus is a very unusual movement disorder. We report a very unusual case of continuous myoclonus invloving the tongue in a 34 years old patient. She is a case of cerebral palsy with undetermined etiology and she developed right anterior cerebral infarction. Consecutively she started to have rhythmic and persistent rythmic abnormal movements involving the tongue and the jaw in the same time. Her Imaging studies including brain CT scan, MRI and MRA showed occlusion of the right anterior cerebral artery with infarction in whole its territory.The abnormal movements subsided near completely on Depakine PO. The EEG monitoring failed to show epileptiform discharge. The pathophysiology of this exceptionally rare abnormal movements involving both the tonguye and the jaw is discussed. This is a very unusual presentation of abnormal movement responding to Depakine.

Uncommon Movement Disorders in Chronic Hepatic Disease with Response to Rifaximin

<strong>Background:</strong> Chronic hepatic disease can present with extrapyramidal symptoms. We describe two cases that presented with highly unusual movement disorders: ballism and gait freezing. <strong>Case report:</strong> Patient 1 is a 42-year-old man with previous episodes of hepatic encephalopathy (HE) who presented with upper limb dystonia and generalized chorea that progressed to ballism. Patient 2 is a 55-year-old woman who presented with pronounced gait freezing. In both patients, features of HE and acquired hepatocerebral degeneration coexisted. They improved markedly, though transiently, with rifaximin. <strong>Discussion:</strong> Ammonia-reducing treatments should be considered in patients presenting with movement disorders due to chronic liver disease.

Unusual movement disorders and atypical MRI findings in patients with West Nile Encephalitis: A case series of two patients with evidence of clinical and imaging resolution with IVIG (P4.9-033)

Unusual movement disorders and atypical MRI findings in patients with West Nile Encephalitis: A case series of two patients with evidence of clinical and imaging resolution with IVIG (P4.9-033)

Clinical Practice Guidelines for the management of Dissociative disorders in children and adolescents.

Clinical Practice Guidelines for the management of Dissociative disorders in children and adolescents.

P.108 Case report: listeria rhombencephalitis in a healthy 64 year old woman

Background: Listeria rhombencephalitis is a rare and serious complication of Listeria monocytogenes infection. We present a case of presumed Listeria rhombencephalitis with dramatic recovery from a highly morbid state. Methods: A previously healthy 64 year old woman with a remote and stable history of a major depressive episode and no history to suggest immune compromise presented with nausea and vomiting followed by the acute onset of diplopia and gait disturbance 28 days after exposure to an identified infectious source of spring rolls and 21 days after a severe diarrheal illness from that exposure. Our patient was evaluated by emergency physicians and general internists over a period of 1 week after the onset of diplopia and gait disturbance and given a diagnosis of serotonin syndrome before receiving a consultation from Neurology. Her presentation featured a deep encephalopathy and an unusual hyperkinetic movement disorder with startle myoclonus, palatal myoclonus and diffuse tremor. Results: Her MRI scan showed FLAIR hyperintensities in the bilateral cerebellum and pons with adjacent pial enhancement, characteristic of Listeria rhombencephalitis. Her CSF showed a lymphocytic pleocytosis with normal chemistry. Conclusions: She recovered dramatically to treatment with IV ampicillin. This case report illustrates the importance of considering Listeria rhombencephalitis in immunocompetent patients with brainstem symptoms following a diarrheal illness.

The Genetics of Benign Paroxysmal Torticollis of Infancy

Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis cases are associated with CACNA1A mutations. The authors sought to determine the frequency of CACNA1A mutations in benign paroxysmal torticollis by testing 8 children and their parents and by searching the literature for benign paroxysmal torticollis cases with accompanying CACNA1A mutations or other disorders linked to the same gene. In our 8 benign paroxysmal torticollis cases, the authors found 3 different polymorphisms, but no pathogenic mutations. By contrast, in the literature, the authors found 4 benign paroxysmal torticollis cases with CACNA1A mutations, 3 with accompanying family histories of 1 or more of familial hemiplegic migraine, episodic ataxia, and paroxysmal tonic upgaze. Thus, CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze.

CT and MR Unilateral Brain Features Secondary to Nonketotic Hyperglycemia Presenting as Hemichorea-Hemiballism.

Hemichorea-hemiballism is an unusual hyperkinetic movement disorder characterized by continuous involuntary movements of an entire limb or both limbs on one side of the body. The acute onset of this disorder occurs with an insult in contralateral basal ganglia. Ischemic events represent the most common cause. Nonketotic hyperglycemia comes in second place. Nonketotic hyperglycemic hemichorea-hemiballism (NHH) is a rare cause of unilateral brain abnormalities on imaging studies confined to basal ganglia (mainly putaminal region as well as caudate nucleus). Subtle hyperdensity in striatal region can be found on CT studies whereas brain MR imaging typically shows T1 hyperintensity and T2 hypointensity in the basal ganglia contralateral to the movements. Diagnosis is based on both glucose levels and neuroimaging findings. Elevated blood glucose and hemoglobin A1c levels occur with poorly controlled diabetes. In this case report, our aim is to present neuroimaging CT and MR unilateral findings in an elderly woman secondary to nonketotic hyperglycemia presenting as hemichorea-hemiballism.

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs—at least SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA—should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report.

Bilateral gluteal dyskinesia: discussion of a rare movement disorder.

BackgroundInvoluntary movements of gluteal muscles have rarely been reported.Case ReportThis 46-year-old female with pelvic endometriosis developed involuntary rhythmic movements in the left gluteus maximus, which within a year became bilateral. The movements gradually increased in intensity and interfered with ambulation. Electromyography, at rest, demonstrated almost continuous periodic gluteal discharges, with left-sided discharges seeming to lead to those on the right. OnabotulinumtoxinA injections into the gluteal muscles improved the movements.DiscussionA rare and previously unreported form of gluteal involuntary movements with periodic electromyographic discharges is described. The cause is uncertain. The differential diagnosis of this unusual movement disorder is discussed, with the most likely diagnosis being myoclonus.

P202 – 1696 A case of unusual lower limb movement disorder in association with Klippel-Trenaunay syndrome (KTS)

P202 – 1696 A case of unusual lower limb movement disorder in association with Klippel-Trenaunay syndrome (KTS)

Deep brain stimulation of the globus pallidus suppresses post-traumatic dystonic tremor

Dystonic tremor is an unusual movement disorder that is highly disabling and difficult to treat medically. We describe an 18-year-old patient with dystonic tremor whose medical treatment failed, and was considered for surgery. The patient had a long-standing dystonic tremor and was recommended for globus pallidus (GP) deep brain stimulation. At 2year follow-up, we observed substantial tremor suppression and best clinical effect with contact three, which, radiographically, is located in the internal globus pallidus/external globus pallidus transition area. The stimulation was more rostral than expected. We conclude that the GP is a potentially useful therapeutic target for dystonic tremor.

Neuroinflammation, neuroautoimmunity, and the co-morbidities of complex regional pain syndrome.

Complex Regional Pain Syndrome (CRPS) is associated with non-dermatomal patterns of pain, unusual movement disorders, and somatovisceral dysfunctions. These symptoms are viewed by some neurologists and psychiatrists as being psychogenic in origin. Recent evidence, however, suggests that an autoimmune attack on self-antigens found in the peripheral and central nervous system may underlie a number of CRPS symptoms. From both animal and human studies, evidence is accumulating that neuroinflammation can spread, either anterograde or retrograde, via axonal projections in the CNS, thereby establishing neuroinflammatory tracks and secondary neuroinflammatory foci within the neuraxis. These findings suggest that neuroinflammatory lesions, as well as their associated functional consequences, should be evaluated during the differential diagnosis of non-dermatomal pain presentations, atypical movement disorders, as well as other “medically unexplained symptoms”, which are often attributed to psychogenic illness.

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. Five patients, their 2 siblings, and their parents were clinically examined. DNA from all 7 siblings was genotyped with Affymetrix SNP arrays and sequencing of selected candidate genes. An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. Three patients ambulated on hands and knees, either by hopping and crossing their legs, or by dragging the legs behind them. Two patients have acquired the ability to walk bipedally with a dystonic gait. Unexpectedly, no chromosomal region was homozygous in patients only. Under different disease models, we localized 7 chromosomal regions in the genome common to all patients. No pathogenic mutations were identified in selected candidate genes or the mitochondrial genome. We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.

Glowing in the Dark: Not Always a Bad Thing

Question: A 55-year-old male long-distance runner of many years underwent evaluation for an unusual movement disorder of the right lower extremity. During the evaluation, a magnetic resonance angiogram of the abdomen, pelvis, and lower extremities was performed to rule out intimal thickening and kinking of pelvic arteries that could have contributed to some of his symptoms. An incidental finding of a 1.7-cm lesion on the right lobe of the liver was identified (Figure A,arrow).

Complex movement disorders in primary antiphospholipid syndrome: A case report

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombotic events and/or pregnancy morbidity that may be isolated (Primary APS) or associated with other diseases, mainly of autoimmune origin (Secondary APS). A variety of neurological symptoms may occur in association with the disease, including movement disorders. We report on a 79 year old woman with an unremarkable past medical history who progressively developed psychomotor agitation and insomnia through a period of four months, followed by an acute onset complex hyperkinetic syndrome with chorea, focal left foot dystonia, oral dyskinesias and severe speech impairment. Brain MRI showed multiple subcortical lesions without basal ganglia involvement, and a large cortical lesion in the left posterior temporal lobe that appeared to be ischemic. These findings along with a strongly elevated titer of anticardiolipin (aCL) and anti-β 2 glycoprotein-I antibodies and positive Lupus Anticoagulant (LAC) suggested a diagnosis of Antiphospholipid Syndrome, confirmed 14 weeks later as a Primary syndrome. The autoimmune mechanisms possibly responsible for the patient's clinical picture are discussed. This case underlines the importance of taking into account APS as a cause of unusual movement disorders even in elderly patients without evidence of previous thrombotic events.