Hyporeflexia
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Is Guillain-Barrè syndrome triggered by SARS-CoV-2? Case report and literature review Open
Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the infectious agent responsible for coronavirus disease 2019 (COVID-19). Respiratory and gastrointestinal manifestations of SARS-CoV-2 are well described, less def…
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<i>BRAT1</i> mutations present with a spectrum of clinical severity Open
Mutations in BRAT1 , encoding BRCA1‐associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypert…
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Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability Open
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework f…
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Clinical, Imaging, and Laboratory Markers of Premanifest Spinocerebellar Ataxia 1, 2, 3, and 6: A Systematic Review Open
Our results suggest that preataxic manifestations vary among SCA1, -2, -3, and -6, with some subtypes sharing specific features. Combining various markers into a standardized index for premanifest carriers may be useful for early screening…
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Clinical Characteristics of Severe Japanese Encephalitis: A Case Series from South Korea Open
Japanese encephalitis (JE) virus is a major cause of devastating viral encephalitis, especially in Asia. Although a successful vaccination program led to its near-elimination over three decades in South Korea, the incidence of JE has incre…
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Association of Guillain-Barre Syndrome With COVID-19: A Case Report and Literature Review Open
There is growing evidence of neurological involvement in patients with coronavirus disease 19 (COVID-19), suggesting that Guillain-Barre syndrome (GBS) can also occur with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as a n…
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Practical approach to the patient with acute neuromuscular weakness Open
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not b…
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Barium poisoning: an uncommon cause of severe hypokalemia Open
Barium poisoning is uncommon. Barium salts are used in a number of industries, including mining, ceramics, plastics, and adhesives and as a green coloring in fireworks. It is also a rodenticide. In poisoning, it blocks passive efflux potas…
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Primary coenzyme Q10 deficiency due to <i>COQ8A</i> gene mutations Open
Background Primary deficiency of coenzyme Q10 deficiency‐4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early‐onset exercise intolerance, p…
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Reversible Neuropsychiatric Disturbances Caused by Nitrous Oxide Toxicity: Clinical, Imaging and Electrophysiological Profiles of 21 Patients with 6–12 Months Follow-up Open
The N2O-induced neuropsychiatric disturbances mainly occurred in the young groups and should be recognized by clinicians. The prognosis of N2O intoxication is relatively good.
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Phenotyping GABA transaminase deficiency: a case description and literature review Open
Gamma‐aminobutyric acid transaminase (GABA‐T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4‐aminobutyrate transaminase, an enzyme of GAB…
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SARS-CoV-2-associated Guillain-Barré syndrome is a para-infectious disease Open
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been linked to the Guillain-Barré syndrome (GBS). The objective of the present study is to identify specific clinical features of cases of GBS reported in the liter…
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Concomitant Guillain–Barré Syndrome and COVID-19: A Meta-Analysis of Cases Open
Background and Objectives: Recent findings demonstrate that the transmigration of severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) to the nervous system implicates severe neurotropic pathologies, including the onset of the rare…
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Unraveling Muscle Impairment Associated With COVID-19 and the Role of 3D Culture in Its Investigation Open
COVID-19, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has been considered a public health emergency, extensively investigated by researchers. Accordingly, the respiratory tract has been the main research focus, …
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Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia Open
Spinocerebellar ataxia type 2 (SCA2), an autosomal dominant cerebellar disorder belonging to the polyglutamine (polyQ) diseases, is characterized by progressive ataxia, slow saccadic eye movement, hyporeflexia, peripheral neuropathy, and p…
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Cannabinoids, Endocannabinoids, and Synthetic Cannabimimetic Molecules in Neuromuscular Disorders Open
Neuromuscular disorders (NMDs) encompass a large heterogeneous group of hereditary and acquired diseases primarily affecting motor neurons, peripheral nerves, and the skeletal muscle system. The symptoms of NMDs may vary depending on the s…
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A study of acute muscle dysfunction with particular reference to dengue myopathy Open
Dengue infection and hypokalemia due to various causes are the most common causes of acute myopathy and are associated with rapid and complete recovery within 1 month. Shorter duration of illness, higher MRC sum score, better disability st…
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Peripheral repetitive magnetic stimulation for the treatment of neurogenic urinary disorders: literature review and investigational study Open
Urinary disorders caused by peripheral nervous system injury are characterized by weakness of neural control of lower urinary tract. Clinical and urodynamic examination demonstrate detrusor-hyporeflexia and its reduced contractility. Magne…
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Combined ocular and cervical vestibular evoked myogenic potential in individuals with vestibular hyporeflexia and in patients with Ménière's disease Open
Combined cervical and ocular vestibular evoked myogenic potential presented relevant results for individuals with vestibular hyporeflexia and for those with Ménière's disease. There were differences between the study groups and the control…
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Meropenem Induced Hypokalemia Open
Meropenam, a beta-lactam antibiotic has been used for severe infections of skin, tissue, intra- abdominal and urogenital infections in hospitalized patients. The common adverse effects reported are diarrhoea, vomiting, rashes and hypersens…
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Acute muscular weakness in children Open
Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/…
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Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <i>ADSSL1</i> Missense Variant Open
This study expands the phenotypic spectrum and variability of ADSSL1 myopathy with unusual manifestations in this rare disorder. Because the variant c.781G>A (p.Asp261Asn) is the most common mutation among Indian patients similar to other …
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Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families Open
Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease‐causing variants in the gigaxonin gene ( GAN ) cause autosomal recessive gi…
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The Immediate Onset of Isolated and Unilateral Abducens Nerve Palsy Associated with COVID-19 Infection: A Case Report and Literature Review Open
Cranial nerve palsy associated with coronavirus disease 2019 (COVID-19) is rare. We herein report the first Asian case of the immediate onset of isolated and unilateral abducens nerve palsy (ANP) accompanied with COVID-19 infection. A 25-y…
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Delayed Signs and Symptoms of Extended Release Guanfacine Overdose in Two Adolescent Patients: Implications of Monitoring on the Psychiatry Unit Open
Guanfacine is a selective alpha-2a adrenoreceptor agonist that with overdose can cause symptoms ranging from mild sedation to coma, respiratory depression, hyporeflexia, hypotonia, bradycardia, and hypotension. Despite a well-defined and p…
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Effectiveness of Physiotherapy Intervention in Guillain Barre Syndrome: A Case Report Open
Guillain-Barre syndrome (GBS) is described by a wide range of motor impairment, flaccidity, hyporeflexia, and progressive and ascending flaccid paralysis. Group B Streptococcus, also known as Streptococcus agalactia and Campylobacter jejun…
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Distinguishing Radiculopathies from Mononeuropathies Open
Identifying "where is the lesion" is particularly important in the approach to the patient with focal dysfunction where a peripheral localization is suspected. This article outlines a methodical approach to the neuromuscular patient in dis…
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Emphasis on the Optimal Functional Recovery Through a Structured Inpatient Rehabilitation Program Along With a Home Exercise Regime in an Individual With Miller-Fisher Syndrome: A Case Report Open
Guillain-Barre syndrome (GBS) is a rare inflammatory demyelinating polyradiculoneuropathy characterized by motor impairment, progressive, ascending, symmetrical flaccid limb paralysis, areflexia or hyporeflexia, and with or without cranial…
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Comparison of acute flaccid myelitis and transverse myelitis in children and evaluation of diagnostic criteria Open
Background and purpose Acute flaccid myelitis (AFM) and transverse myelitis (TM) are serious conditions that may be difficult to differentiate, especially at onset of disease. In this study, we compared clinical features of pediatric AFM a…
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Is Ross Syndrome a New Type of Synucleinopathy? A Brief Research Report Open
Ross syndrome (RS) is a rare peripheral autonomic system disorder characterized by tonic pupil, hyporeflexia, and segmental anhidrosis. Neuropathological studies show that RS results from the selective cholinergic nerve degeneration. Howev…