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Medicina (Kaunas, Lithuania) Feb 2024Asterixis is a subtype of negative myoclonus characterized by brief, arrhythmic lapses of sustained posture due to involuntary pauses in muscle contraction. We performed... (Review)
Review
Asterixis is a subtype of negative myoclonus characterized by brief, arrhythmic lapses of sustained posture due to involuntary pauses in muscle contraction. We performed a narrative review to characterize further asterixis regarding nomenclature, historical aspects, etiology, pathophysiology, classification, diagnosis, and treatment. Asterixis has been classically used as a synonym for negative myoclonus across the literature and in previous articles. However, it is important to distinguish asterixis from other subtypes of negative myoclonus, for example, epileptic negative myoclonus, because management could change. Asterixis is not specific to any pathophysiological process, but it is more commonly reported in hepatic encephalopathy, renal and respiratory failure, cerebrovascular diseases, as well as associated with drugs that could potentially lead to hyperammonemia, such as valproic acid, carbamazepine, and phenytoin. Asterixis is usually asymptomatic and not spontaneously reported by patients. This highlights the importance of actively searching for this sign in the physical exam of encephalopathic patients because it could indicate an underlying toxic or metabolic cause. Asterixis is usually reversible upon treatment of the underlying cause.
Topics: Humans; Myoclonus; Tremor; Dyskinesias; Brain Diseases; Carbamazepine
PubMed: 38541088
DOI: 10.3390/medicina60030362 -
Children (Basel, Switzerland) Mar 2024Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements,... (Review)
Review
Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements, irritability, and sleep disruptions, often in young children. We report a case of an infant barely 6 months old, with no significant past medical history, who presented to the emergency department with tremors, jerking motions of the head and arms, and rapid eye movements. After an extensive workup, she was found to have a neuroblastoma, which was subsequently surgically removed via thoracotomy. Despite an initial improvement in symptoms post-resection, the patient's symptoms recurred. She was subsequently treated with dexamethasone, intravenous immunoglobulin (IVIG), and rituximab. After treatment, the patient was noted to have mild global developmental delays but was otherwise well. This case report highlights the rare occurrence of OMAS in an infant barely 6 months old at diagnosis. Using the PubMed database, a systematic review was conducted to highlight the clinical presentation, diagnosis, and management of OMAS.
PubMed: 38539402
DOI: 10.3390/children11030367 -
Journal of Movement Disorders Mar 2024Since the release of vaccines against COVID-19, there have been reports of vaccine-related neurologic complications. This study aimed to create a descriptive systematic...
OBJECTIVES
Since the release of vaccines against COVID-19, there have been reports of vaccine-related neurologic complications. This study aimed to create a descriptive systematic review of movement disorders associated with COVID-19 vaccines.
METHODS
We described the demographics, clinical presentation, management, outcomes, and proposed patho-mechanism. A systematic review was performed according to the PRISMA guidelines. A standardized tool was used to assess the quality of the cases.
RESULTS
We have identified 8 articles that met our inclusion criteria consisting of 10 patients who developed movement disorders after vaccination. The majority were males (n = 8), with a median age of 64.5 years. The most common movement disorder was hemichorea. The rest presented with generalized chorea with myoclonus, cervical dystonia, and akathisia. Most cases responded with immunotherapy. The standardized tool used showed that most studies have a low risk of bias.
CONCLUSION
The reported incidence of vaccine-related movement disorders was low in occurrence based on available published cases that were found.
PubMed: 38500249
DOI: 10.14802/jmd.24001 -
Neurology. Genetics Apr 2024Characterize the presentation, workup, and management of myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family...
OBJECTIVES
Characterize the presentation, workup, and management of myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family history of movement abnormalities.
METHODS
A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT that account for only half of the total myoclonus-dystonia patients. As such, this case required intensive genetic analyses rather than screening only for a small subset of well-characterized mutations.
RESULTS
Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the gene, resulting in a diagnosis of myoclonus-dystonia.
DISCUSSION
Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.
PubMed: 38486676
DOI: 10.1212/NXG.0000000000200128 -
Journal of Infection in Developing... Feb 2024Coronavirus disease 2019 (COVID-19) can have symptoms like many neurological diseases, and one of the rare forms of these presentations is opsoclonus-myoclonus ataxia...
INTRODUCTION
Coronavirus disease 2019 (COVID-19) can have symptoms like many neurological diseases, and one of the rare forms of these presentations is opsoclonus-myoclonus ataxia syndrome (OMAS). The pathogenesis of OMAS in adults has not been clearly elucidated and OMAS can be fatal.
CASE PRESENTATION
We present a 71-year-old male patient who was admitted to the emergency department with complaints of involuntary tremor-like movements in his hands, feet and mouth, and speech impediment for three days, and was followed up with COVID-19. The patient was diagnosed with OMAS and clonazepam treatment was started. He died three days later due to respiratory arrest. Our case is the first case diagnosed with COVID-19-associated OMAS in Turkey.
DISCUSSION
OMAS has no definitive treatment. Early diagnosis and initiation of corticosteroids and intravenous immunoglobulin (IVIG) therapy, if necessary, can be life-saving. In COVID-19 patients with unexplained clinical findings, awareness of different and rare diseases and a multidisciplinary approach has vital importance.
Topics: Aged; Humans; Male; Adrenal Cortex Hormones; Ataxia; COVID-19; Immunoglobulins, Intravenous; Ocular Motility Disorders; Opsoclonus-Myoclonus Syndrome
PubMed: 38484346
DOI: 10.3855/jidc.17927 -
Journal of Neurosciences in Rural... 2024Scrub typhus is a simple acute febrile illness with rash or an eschar, with up to one-fifth of the patients complicated with the nervous system. Hence, certain cases...
Scrub typhus is a simple acute febrile illness with rash or an eschar, with up to one-fifth of the patients complicated with the nervous system. Hence, certain cases present to physicians with rather a different systemic manifestation and incidentally have been diagnosed with scrub typhus. We present two such cases of scrub typhus with neurological manifestations. The first case was of a 14-year-old boy with no previous history of any comorbidities who presented with bilateral opsoclonus with multifocal spontaneous myoclonus with cerebellar ataxia with a preceding history of fever and acute gastroenteritis. The second case of a 30-year-old gentleman with no previous history of any comorbidities presented to us with generalized tonic-clonic seizures and spontaneous multifocal myoclonus with a preceding history of fever. Both cases had no motor, sensory, cerebellar, or autonomic involvement. The pathophysiology of central nervous system (CNS) infections in scrub typhus is attributed to three major mechanisms of vasculitis, direct invasion, and immune-mediated. CNS involvement in scrub typhus is a significant marker for risk of mortality or morbidity. The most common CNS manifestations in scrub include meningitis, encephalitis, and seizures. Opsoclonus, myoclonus, and parkinsonism are comparatively rare manifestations.Scrub typhus infection must be considered in the differential diagnosis of clinical neurological features with even a remote history of acute febrile illnesses in endemic regions like ours, despite the absence of any eschar, rashes, and unremarkable neuroimaging.
PubMed: 38476416
DOI: 10.25259/JNRP_314_2023 -
Neuroscience Research Jul 2024Neurodegenerative diseases (ND) affect distinct populations of neurons and manifest various clinical and pathological symptoms. A subset of ND prognoses has been linked...
Neurodegenerative diseases (ND) affect distinct populations of neurons and manifest various clinical and pathological symptoms. A subset of ND prognoses has been linked to vascular risk factors. Consequently, the current study investigated retinal vascular abnormalities in a murine model of Lafora neurodegenerative disease (LD), a fatal and genetic form of progressive myoclonus epilepsy that affects children. Here, arterial rigidity was evaluated by measuring pulse wave velocity and vasculature deformations in the retina. Our findings in the LD mouse model indicate altered pulse wave velocity, retinal vascular thinning, and convoluted retinal arteries.
Topics: Animals; Disease Models, Animal; Lafora Disease; Mice; Retinal Vessels; Mice, Inbred C57BL; Male; Myoclonic Epilepsies, Progressive
PubMed: 38458494
DOI: 10.1016/j.neures.2024.02.004 -
Cureus Feb 2024Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder caused by prion proteins. In about 85% of patients, CJD occurs as a sporadic...
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder caused by prion proteins. In about 85% of patients, CJD occurs as a sporadic disease with no recognizable pattern of transmission. Sporadic CJD (sCJD) can present with rapid cognitive and functional decline, memory deficits, myoclonus, pyramidal and extrapyramidal signs, and visual deficits. The large spectrum of phenotypic variability has made the recognition of prion diseases difficult, and given the rare incidence, it is not uncommon for it to be missed as a potential diagnosis. We present a highly unusual case of a 76-year-old woman with rapidly progressive sCJD who died within five weeks of presentation. Our case demonstrates a typical sequence of symptoms, with rapidly progressive dementia and cerebellar signs at disease onset and myoclonus later in the disease course.
PubMed: 38435214
DOI: 10.7759/cureus.53381 -
Tremor and Other Hyperkinetic Movements... 2024A wide variety of associated movement disorders has been described in multiple sclerosis.
BACKGROUND
A wide variety of associated movement disorders has been described in multiple sclerosis.
PHENOMENOLOGY SHOWN
A 57-year-old woman with primary progressive multiple sclerosis developed spinal segmental myoclonus associated with focal myelitis.
EDUCATIONAL VALUE
Movement disorders in multiple sclerosis are phenomenologically diverse and have varied pathophysiological mechanisms, making it essential to identify them to initiate appropriate treatment.
Topics: Female; Humans; Middle Aged; Myoclonus; Multiple Sclerosis; Multiple Sclerosis, Chronic Progressive; Spinal Cord Diseases; Movement Disorders
PubMed: 38434714
DOI: 10.5334/tohm.862 -
Pediatric Neurology May 2024Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been...
BACKGROUND
Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America.
METHODS
We analyzed the data of patients diagnosed with OMS between 2010 and 2020 at Pequeno Principe Hospital (Brazil) to determine the corresponding clinical profile more accurately.
RESULTS
Of the approximately 50,000 visitors to our pediatric neurology department from 2010 to 2020, 10 patients with OMS were observed. Five nontumor cases included three parainfectious and two idiopathic cases. The median time from symptom onset to diagnosis was 34 days. All patients with diagnostic OMS criteria in the idiopathic, nontumor group underwent whole-exome sequencing, with potentially pathogenic mutations identified in two cases. Nine patients were treated with methylprednisolone pulse, followed by oral steroids; eight received one or more intravenous immunoglobulin treatments; and six received azathioprine and cyclophosphamide. Complete symptomatic recovery was observed in only one patient.
CONCLUSIONS
OMS diagnosis remains challenging. Diagnostic suspicion is necessary to improve the management of these patients and allow early immunosuppressive treatment. Paraneoplastic etiology is the most prevalent. In idiopathic patients who do not respond to immunosuppressive treatment, tests, such as whole-exome sequencing, may reveal a differential diagnosis. Genetic alterations that increase the risk of tumors may be an important clue to the pathophysiology of OMS.
Topics: Child; Humans; Opsoclonus-Myoclonus Syndrome; Latin America; Hospitals, Pediatric; Cyclophosphamide; Immunosuppressive Agents
PubMed: 38430891
DOI: 10.1016/j.pediatrneurol.2023.12.028