Myosine de type II : Questions médicales fréquentes
Nom anglais: Myosin Type II
Descriptor UI:D024462
Tree Number:D12.776.220.525.475.475
Termes MeSH sélectionnés :
Gain of Function Mutation
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"headline": "Diagnostic sur Myosine de type II",
"description": "Comment diagnostiquer une anomalie de myosine de type II ?\nQuels tests sont utilisés pour évaluer la myosine de type II ?\nLes symptômes musculaires peuvent-ils indiquer un problème de myosine ?\nQuel rôle joue l'imagerie dans le diagnostic ?\nPeut-on détecter des mutations génétiques liées à la myosine ?",
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"@type": "Question",
"name": "Comment diagnostiquer une anomalie de myosine de type II ?",
"position": 1,
"acceptedAnswer": {
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"text": "Un diagnostic peut inclure des tests génétiques et des biopsies musculaires."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer la myosine de type II ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests d'électromyographie et des analyses histologiques sont couramment utilisés."
}
},
{
"@type": "Question",
"name": "Les symptômes musculaires peuvent-ils indiquer un problème de myosine ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des faiblesses musculaires ou des crampes peuvent signaler des anomalies."
}
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"@type": "Question",
"name": "Quel rôle joue l'imagerie dans le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'imagerie par résonance magnétique peut aider à visualiser les anomalies musculaires."
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{
"@type": "Question",
"name": "Peut-on détecter des mutations génétiques liées à la myosine ?",
"position": 5,
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"text": "Oui, des tests génétiques peuvent identifier des mutations spécifiques de la myosine."
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en myosine de type II ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent faiblesse musculaire, fatigue et crampes fréquentes."
}
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"@type": "Question",
"name": "La douleur musculaire est-elle liée à la myosine de type II ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des douleurs musculaires peuvent survenir en raison de dysfonctionnements."
}
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"@type": "Question",
"name": "Les troubles de la coordination sont-ils associés à la myosine ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles de la coordination peuvent être observés dans certaines conditions."
}
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"@type": "Question",
"name": "Les spasmes musculaires sont-ils un symptôme courant ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les spasmes musculaires peuvent être fréquents chez les personnes affectées."
}
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"@type": "Question",
"name": "Y a-t-il des signes visibles de faiblesse musculaire ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme l'atrophie musculaire peuvent être visibles dans certains cas."
}
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"@type": "Question",
"name": "Peut-on prévenir les troubles liés à la myosine de type II ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est limitée, mais un mode de vie sain peut aider à maintenir la santé musculaire."
}
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"@type": "Question",
"name": "L'exercice régulier peut-il aider à prévenir des problèmes musculaires ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier renforce les muscles et peut prévenir certaines faiblesses."
}
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"@type": "Question",
"name": "Une alimentation équilibrée est-elle importante ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation riche en nutriments soutient la santé musculaire et générale."
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"@type": "Question",
"name": "Les dépistages précoces sont-ils recommandés ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dépistages peuvent aider à identifier les problèmes musculaires tôt, surtout en cas d'antécédents familiaux."
}
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{
"@type": "Question",
"name": "Le repos est-il essentiel pour la santé musculaire ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un repos adéquat est crucial pour la récupération musculaire et la prévention des blessures."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour les troubles de myosine ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la physiothérapie, les médicaments et parfois la chirurgie."
}
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{
"@type": "Question",
"name": "La physiothérapie est-elle efficace pour les patients ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut améliorer la force et la fonction musculaire."
}
},
{
"@type": "Question",
"name": "Des médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments anti-inflammatoires peuvent soulager la douleur et l'inflammation."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle une option pour les troubles de myosine ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans certains cas, la chirurgie peut être envisagée pour corriger des déformations."
}
},
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"@type": "Question",
"name": "Les thérapies géniques sont-elles une option de traitement ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les thérapies géniques sont en recherche pour traiter certaines myopathies liées à la myosine."
}
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec des troubles de myosine ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent la perte de mobilité, des déformations et des douleurs chroniques."
}
},
{
"@type": "Question",
"name": "Les troubles respiratoires sont-ils une complication possible ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles respiratoires peuvent survenir si les muscles respiratoires sont affectés."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de chutes ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la faiblesse musculaire augmente le risque de chutes et de blessures."
}
},
{
"@type": "Question",
"name": "Les complications cardiaques sont-elles possibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications cardiaques peuvent survenir si la myosine cardiaque est affectée."
}
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{
"@type": "Question",
"name": "Les troubles de la déglutition peuvent-ils être une complication ?",
"position": 25,
"acceptedAnswer": {
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"text": "Oui, des troubles de la déglutition peuvent se développer si les muscles concernés sont touchés."
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"@type": "Question",
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"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des maladies génétiques et le vieillissement."
}
},
{
"@type": "Question",
"name": "L'âge est-il un facteur de risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le vieillissement peut augmenter le risque de troubles musculaires liés à la myosine."
}
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{
"@type": "Question",
"name": "Les maladies auto-immunes augmentent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines maladies auto-immunes peuvent affecter la fonction musculaire."
}
},
{
"@type": "Question",
"name": "Le mode de vie sédentaire est-il un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un mode de vie sédentaire peut contribuer à la faiblesse musculaire et à d'autres problèmes."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles affecter la myosine ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent endommager les muscles et affecter la fonction de la myosine."
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Autosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in an inborn error of immunity characterized by chronic mucocutaneous candidiasis,...
While advancements in imaging techniques have led to major strides in deciphering the human brain, successful interventions are elusive and represent some of the most persistent translational gaps in ...
The physiological role of CHRFAM7A in human brain is explored using multiomics approach on 600 post mortem human brain tissue samples. The emerging pathways and mechanistic hypotheses are tested and v...
CHRFAM7A is identified as a modulator of intracellular calcium dynamics and an upstream regulator of Rac1. Rac1 activation re-designs the actin cytoskeleton leading to dynamic actin driven remodeling ...
CHRFAM7A modifies the actin cytoskeleton to a more dynamic and stiffness resistant state in an α7nAChR dependent manner. CHRFAM7A may facilitate neuronal adaptation to changes in the brain environment...
This work is supported in part by the Community Foundation for Greater Buffalo (Kinga Szigeti). Also, in part by the International Society for Neurochemistry (ISN) and The Company of Biologists (Nicol...
Biallelic loss-of-function variants in IKBKB cause severe combined immunodeficiency. We describe a case of autoimmunity and autoinflammation in a male infant with a heterozygous gain-of-function (GOF)...
Case report and review of the literature. We performed in silico variant analysis, measurement of plasma soluble biomarkers associated with immune activation, functional stimulation of patient periphe...
A patient with two heterozygous IKBKB variants (E518K and T559M) presents with previously undescribed autoimmune cytopenias and autoinflammation. He had decreased TNF-α-induced IkBα degradation in vit...
A GOF variant in IKBKB may associate with autoinflammation and autoimmunity highlighting a novel clinical phenotype....
Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu29...
Patients with STAT1 gain-of-function (GOF) mutations suffer from an inborn error of immunity hallmarked by chronic mucocutaneous candidiasis (CMC). The pathogenesis behind this complex and heterogeneo...
α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate receptors (AMPARs) are ligand-gated cationic channels formed from combinations of GluA1-4 subunits. Pathogenic variants of GRIA1-4 h...
The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins i...
Phospholipase C (PLC) γ1 is a critical enzyme regulating nuclear factor-κB (NF-κB), extracellular signal-related kinase, mitogen-activated protein kinase, and nuclear factor of activated T cells signa...
We aimed to investigate the molecular pathogenesis of a PLCG1 activating variant in a patient with immune dysregulation....
Whole exome sequencing was used to identify the patient's pathogenic variants. Bulk RNA sequencing, single-cell RNA sequencing, quantitative PCR, cytometry by time of flight, immunoblotting, flow cyto...
We identified a novel and de novo heterozygous PLCG1 variant, p.S1021F, in a patient presenting with early-onset immune dysregulation disease. We demonstrated that the S1021F variant is a gain-of-func...
Our study highlights the critical role of PLCγ1 in maintaining immune homeostasis. We illustrate immune dysregulation as a consequence of PLCγ1 activation and provide insight into therapeutic targetin...
NSD2 dimethylates histone H3 at lysine 36 (H3K36me2) and is located in the Wolf-Hirschhorn syndrome (WHS) critical region. Recent descriptions have delineated loss-of-function (LoF) variants in NSD2 w...