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Frontiers in Neurology 2019Parkinson's disease (PD) is a heterogeneous neurodegenerative disorder that affects an estimated 10 million sufferers worldwide. The two forms of PD include familial and... (Review)
Review
Parkinson's disease (PD) is a heterogeneous neurodegenerative disorder that affects an estimated 10 million sufferers worldwide. The two forms of PD include familial and sporadic, and while the etiology of PD is still largely unknown, the condition is likely to be multifactorial with genetic and environmental factors contributing to disease genesis. Diagnosis of the condition is attained through the observation of cardinal clinical manifestations including resting tremor, muscle rigidity, slowness or loss of movement, and postural instability. Unfortunately, by the time these features become apparent extensive neurological damage has already occurred. A cure for PD has not been identified and the current therapy options are pharmaceutical- and/or surgical-based interventions to treat condition symptoms. There is no specific test for PD and most diagnoses are confirmed by a combination of clinical symptoms and positive responses to dopaminergic drug therapies. The prevalence and incidence of PD vary worldwide influenced by several factors such as age, gender, ethnicity, genetic susceptibilities, and environmental exposures. Here, we will present environmental factors implicated in sporadic PD onset. By understanding the mechanisms in which environmental factors interact with, and affect the brain we can stride toward finding the underlying cause(s) of PD.
PubMed: 30941085
DOI: 10.3389/fneur.2019.00218 -
Missouri Medicine 2018Giant cell arteritis is the most common large vessel vasculitis. Classic symptoms include headaches, scalp tenderness, visual loss and muscle stiffness and pain. First... (Review)
Review
Giant cell arteritis is the most common large vessel vasculitis. Classic symptoms include headaches, scalp tenderness, visual loss and muscle stiffness and pain. First line treatment is with high dose steroids but methotrexate may be of some help in decreasing steroid use. Tocilizumab has been shown to significantly decrease relapse rate and lower steroid cumulative dose.
Topics: Antibodies, Monoclonal, Humanized; Drug Therapy, Combination; Giant Cell Arteritis; Headache; Humans; Immunosuppressive Agents; Methotrexate; Muscle Rigidity; Scalp; Vision Disorders
PubMed: 30385998
DOI: No ID Found -
Indian Journal of Critical Care... May 2021Tetanus is caused by an exotoxin, tetanospasmin, produced by , an anaerobic gram-positive bacillus.Tetanospasmin prevents the release of inhibitory neurotransmitter...
Tetanus is caused by an exotoxin, tetanospasmin, produced by , an anaerobic gram-positive bacillus.Tetanospasmin prevents the release of inhibitory neurotransmitter gamma-aminobutyric acid (GABA) in the spinal cord, brainstem motor nuclei, and the brain, producing muscle rigidity and tonic spasms.Trismus (lockjaw), dysphagia, laryngeal spasms, rigidity of limbs and paraspinal muscles, and opisthotonic posture are common.Frequent severe spasms triggered by touch, pain, bright light, or sounds may produce apnea and rhabdomyolysis.Autonomic overactivity occurs in severe tetanus causing labile hypertension, tachycardia, increased secretions, sweating, and urinary retention. Dysautonomia is difficult to manage and is a common cause of mortality; magnesium sulfate infusion is often used.Antibiotics (penicillin or metronidazole) and wound care reduce toxin production and human tetanus immune globulin neutralizes the circulating toxin.Nasogastric tube placement for feeding and medications is needed.Early elective tracheostomy is performed in moderate or severe tetanus to prevent aspiration and laryngeal stridor.Benzodiazepines help reduce rigidity, spasms, and autonomic dysfunction. Large doses of diazepam (0.2-1 mg/kg/h) are administered via nasogastric tube.Neuromuscular blocking agents and mechanical ventilation are used for refractory spasms.Mortality ranges from 5% to 50%. Karnad DR, Gupta V. Intensive Care Management of Severe Tetanus. Indian J Crit Care Med 2021; 25(Suppl 2):S155-S160.
PubMed: 34345131
DOI: 10.5005/jp-journals-10071-23829 -
Journal of Family & Community Medicine 2024Optimum serotonin level in the serotonergic synapses of the central nervous system (CNS) is related to mood, behavior, and sleep. Serotonin syndrome (SS) is a rare yet... (Review)
Review
Optimum serotonin level in the serotonergic synapses of the central nervous system (CNS) is related to mood, behavior, and sleep. Serotonin syndrome (SS) is a rare yet very dangerous adverse effect resulting from increased serotonin in CNS. The diagnosis of SS is based on the presence of clinical symptoms, which can include agitation, confusion, rapid heart rate, high blood pressure, dilated pupils, muscle rigidity, tremors, sweating, and diarrhea. SS is invariably caused by inadvertent use of serotonergic medicines. There is an ever-growing list of medicines that are associated with the risk of SS. Some of the common classes of drugs that can contribute to the development of SS include selective serotonin reuptake inhibitors, serotonin-norepinephrine reuptake inhibitors, monoamine oxidase inhibitors, tricyclic antidepressants, stimulants (e.g., amphetamines and cocaine), lithium, opioids, drugs used for recreational purposes like ecstasy Methylenedioxymethamphetamine (MDMA), and some herbal supplements (e.g., St. John's Wort). SS can occur when these medications are taken alone or in combination, especially when a new medication is added, or the dose of an existing medication is changed. The management of SS typically involves discontinuing the use of the substance that caused the excess serotonin levels and providing supportive care, such as intravenous fluids and electrolytes. In severe cases, benzodiazepines may be used to control agitation and muscle rigidity, while serotonin antagonists, such as cyproheptadine, may be used to reduce serotonin levels. The literature review points to a general unawareness among physicians about the condition or drugs associated with it. Consequently, this potentially fatal condition is overlooked. There is a need for regular information updates and reminders to all those who prescribe medications to the patients.
PubMed: 38406216
DOI: 10.4103/jfcm.jfcm_236_23 -
Journal of Family Medicine and Primary... 2016Neuroleptic malignant syndrome (NMS) is a life-threatening emergency that is often seen as a complication of antipsychotic agents. It is characterized by a tetrad of...
Neuroleptic malignant syndrome (NMS) is a life-threatening emergency that is often seen as a complication of antipsychotic agents. It is characterized by a tetrad of motor, behavioral, autonomic, and laboratory abnormalities. We report a case of a 34-year-old man with a history of newly diagnosed Type 2 diabetes mellitus, mental retardation, and behavioral abnormalities who developed NMS after starting on antipsychotic agents. He presented with high temperature, muscle rigidity, tachycardia, and elevated blood pressure. After a week of hospital treatment in the general ward of a secondary care unit, he was discharged in a hemodynamically and mentally stable state.
PubMed: 27453870
DOI: 10.4103/2249-4863.184660 -
Psychiatria Danubina Dec 2015Parkinson's disease is the second most frequent neurodegenerative disorder. There is significantly elevated risk of cognitive decline and associated neuropsychiatric... (Review)
Review
Parkinson's disease is the second most frequent neurodegenerative disorder. There is significantly elevated risk of cognitive decline and associated neuropsychiatric symptoms. Dementia may develop insidiously several years after manifestation of Parkinson motor symptoms (dementia associated with Parkinson's disease; Parkinson's disease dementia) or in close temporal relationship (within one year) after onset of motor symptoms (Dementia with Lewy bodies). There are clinical, pathophysiological and therapeutic similarities between these two conditions. Men are more frequently affected than women. Risk factor or indicators are advanced age at disease onset, disease duration, rigidity, akinesia and posture and gait impairment and falls as opposed to tremor dominance, and associated neuropsychiatric symptoms (depression, apathy, hallucinosis, delirium). Dementia is treatable with cholinesterase inhibitors (rivastigmine, donepezil), memantine, and adjustment of the pharmacological regimen of parkinsonian motor symptoms. Concomitant autonomic nervous system symptoms and neuropsychiatric complications warrant early clinical awareness and are accessible to pharmacological therapy.
Topics: Cholinesterase Inhibitors; Cognitive Dysfunction; Donepezil; Humans; Memantine; Muscle Rigidity; Parkinson Disease; Risk Factors; Rivastigmine
PubMed: 26609664
DOI: No ID Found -
Journal of Perianesthesia Nursing :... Aug 2022Malignant hypothermia (MH) is a potentially fatal hypermetabolic reaction of skeletal muscle. It is an autosomal dominant disorder that generally occurs in people with...
Malignant hypothermia (MH) is a potentially fatal hypermetabolic reaction of skeletal muscle. It is an autosomal dominant disorder that generally occurs in people with RYR1, CACNA1S, or STAC3 mutations. And these genetic abnormalities often cause the imperfection of calcium release channels of skeletal muscle. The incidence of MH among different racial groups across the world ranges from approximately 1:5,000-1:250,000, but there is no national statistic MH incidence in China. It is not clear whether there are racial or regional differences in the incidence, but patients under 18 years old may be more affected. MH can be triggered by anesthetics, or other stimuli, such as strenuous exercise, heat-stroke, and emotional stress. While viral infection, statins, hyperglycemia, and muscle metabolic dysfunctions might accelerate the onset of MH. The onset of MH is insidious and rapid, with the preclinical stage characterized by rigidity of the masseter muscle, a high level of end-tidal carbon dioxide, and a sharp and persistent increase in body temperature. Medical history, family history, clinical presentation, in vitro caffeine-halothane contracture testing (IVCT/CHCT) and genetic testing are commonly diagnostic methods of MH. As soon as the onset of MH is suspected, immediate cessation of exposure to stimuli, call for professional support, and access to dantrolene are the highest priorities. For symptomatic treatment, "5C principles" were summarized as an algorithm to guide clinicians.
Topics: Adolescent; Caffeine; China; Halothane; Humans; Malignant Hyperthermia; Mutation
PubMed: 35414440
DOI: 10.1016/j.jopan.2021.08.018 -
Neurology. Genetics Oct 2023-related muscular dystrophy (-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory...
BACKGROUND AND OBJECTIVES
-related muscular dystrophy (-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory impairment. No curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data, and appropriate clinical and functional outcome measures are needed. We aim for deep clinical phenotyping, establishment of a well-characterized baseline cohort for prospective follow-up and recruitment for future clinical trials, improvement of clinical care, and selection of outcome measures for reaching trial readiness.
METHODS
We performed a cross-sectional, single-center, observational study. This study included neurologic examination and functional measurements among others the Motor Function Measure 20/32 (MFM-20/32) as primary outcome measure, accelerometry, questionnaires, muscle ultrasound, respiratory function tests, electrocardiography and echocardiography, and dual-energy X-ray absorptiometry.
RESULTS
Twenty-seven patients with genetically confirmed -MD were included (21 ± 13 years; M = 9; ambulant = 7). Axial and proximal muscle weakness was most pronounced. The mean MFM-20/32 score was 42.0% ± 29.4%, with domain 1 (standing and transfers) being severely affected and domain 3 (distal muscle function) relatively spared. Physical activity as measured through accelerometry showed very strong correlations to MFM-20/32 (Pearson correlation, -0.928, < 0.01). Muscle ultrasound showed symmetrically increased echogenicity, with the sternocleidomastoid muscle most affected. Respiratory function was impaired in 85% of patients without prominent diaphragm dysfunction and was independent of age. Ten patients (37%) needed (non)invasive ventilatory support. Cardiac assessment revealed QRS fragmentation in 62%, abnormal left ventricular global longitudinal strain in 25%, and decreased left ventricular ejection fraction in 14% of patients. Decreased bone quality leading to fragility fractures was seen in most of the patients.
DISCUSSION
-MD has a widely variable phenotype. Based on the results of this cross-sectional study and current standards of care for congenital muscular dystrophies, we advise routine cardiorespiratory follow-up and optimization of bone quality. We propose MFM-20/32, accelerometry, and muscle ultrasound for assessing disease severity and progression. For definitive clinical recommendations and outcome measures, natural history data are needed.
CLINICAL TRIALS REGISTRATION
This study was registered at clinicaltrials.gov (NCT04478981, 21 July 2020). The first patient was enrolled in September 2020.
PubMed: 37476021
DOI: 10.1212/NXG.0000000000200089 -
Folia Neuropathologica 2016Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures,... (Review)
Review
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.
Topics: Animals; Genetic Predisposition to Disease; Humans; Muscle Cells; Muscular Atrophy; Muscular Dystrophy, Emery-Dreifuss; Mutation; Nuclear Proteins
PubMed: 27179216
DOI: 10.5114/fn.2016.58910