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Glucan 1,4-beta-glucosidase
Glucan 1,4-beta-glucosidase : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"name": "Comment diagnostiquer une déficience en glucan 1,4-beta-glucosidase ?",
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"text": "Un diagnostic se fait par des tests enzymatiques et des analyses génétiques."
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{
"@type": "Question",
"name": "Quels tests sont utilisés pour mesurer l'activité de l'enzyme ?",
"position": 2,
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"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème enzymatique ?",
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"@type": "Answer",
"text": "Des symptômes comme la fatigue, des douleurs musculaires et des troubles digestifs peuvent apparaître."
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{
"@type": "Question",
"name": "La biopsie musculaire est-elle utile pour le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut révéler des anomalies dans l'activité enzymatique des muscles."
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"@type": "Question",
"name": "Peut-on utiliser l'imagerie pour diagnostiquer des troubles liés à cette enzyme ?",
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{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en glucan 1,4-beta-glucosidase ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent fatigue, faiblesse musculaire et troubles de la digestion."
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"@type": "Question",
"name": "Les douleurs musculaires sont-elles fréquentes ?",
"position": 7,
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"@type": "Answer",
"text": "Oui, les douleurs musculaires sont un symptôme courant de cette déficience enzymatique."
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"@type": "Question",
"name": "Y a-t-il des symptômes digestifs associés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Des troubles digestifs comme des ballonnements et des douleurs abdominales peuvent survenir."
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent varier en fonction de l'âge et de la gravité de la déficience."
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{
"@type": "Question",
"name": "Des symptômes neurologiques peuvent-ils apparaître ?",
"position": 10,
"acceptedAnswer": {
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"text": "Des symptômes neurologiques sont rares mais peuvent survenir dans des cas avancés."
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{
"@type": "Question",
"name": "Peut-on prévenir les déficiences enzymatiques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, car ces déficiences sont souvent d'origine génétique."
}
},
{
"@type": "Question",
"name": "Des tests génétiques peuvent-ils aider à la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs et aider à la planification familiale."
}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils de mode de vie pour réduire les risques ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut aider à gérer les symptômes, mais ne prévient pas la déficience."
}
},
{
"@type": "Question",
"name": "Les femmes enceintes doivent-elles être testées ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests peuvent être recommandés si des antécédents familiaux de déficience existent."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent fournir des informations précieuses aux familles à risque."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal est la thérapie enzymatique de remplacement pour améliorer la fonction."
}
},
{
"@type": "Question",
"name": "Des médicaments spécifiques sont-ils disponibles ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques approuvés pour cette condition."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle recommandée ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à améliorer la force musculaire et la fonction physique."
}
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{
"@type": "Question",
"name": "Y a-t-il des régimes alimentaires à suivre ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un régime équilibré peut aider à gérer les symptômes, mais aucune restriction spécifique n'est nécessaire."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils efficaces à long terme ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent améliorer la qualité de vie, mais les résultats varient selon les individus."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec cette déficience ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications musculaires et digestives peuvent survenir, affectant la qualité de vie."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais elles ne sont pas toujours réversibles."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes atteintes peuvent avoir un risque accru de maladies métaboliques."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la vie quotidienne ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent limiter les activités quotidiennes et nécessiter des ajustements."
}
},
{
"@type": "Question",
"name": "Des soins palliatifs sont-ils nécessaires dans les cas avancés ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans les cas avancés, des soins palliatifs peuvent être nécessaires pour améliorer le confort."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque majeurs."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs environnementaux n'ont pas été clairement établis comme des contributeurs significatifs."
}
},
{
"@type": "Question",
"name": "Les personnes d'ascendance spécifique sont-elles plus à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines populations peuvent avoir un risque accru en raison de la consanguinité."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque de déficience ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'âge n'est pas un facteur de risque direct, mais les symptômes peuvent apparaître plus tard."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus à risque que les hommes ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la déficience affecte les hommes et les femmes de manière égale, selon les études."
}
}
]
}
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After more than twenty years of academic research on functional neurological disorders (FND) throughout the world, a standardized care management strategy has emerged to allow a more adapted care offe...
Functional neurological disorder (FND) is a common issue in the pediatric population. The concept and our understanding of functional neurological disorders have changed over the past years, and new e...
Functional neurological disorders (FNDs) are common but often misdiagnosed....
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A positive diagnosis of FNDs can be made on the basis of history and neurological signs without reliance on psychological stressors. Past sensitizing events and neurobiological abnormalities contribut...
In vivo magnetic resonance spectroscopy (MRS) was used to investigate neurometabolic homeostasis in children with functional neurological disorder (FND) in three regions of interest: supplementary mot...
MRS data were acquired for 32 children with mixed FND (25 girls, 7 boys, aged 10.00 to 16.08 years) and 41 healthy controls of similar age using both short echo point-resolved spectroscopy (PRESS) and...
In the SMA, children with FND had lower NAA/Cr, mI/Cr (trend level), and GABA/Cr ratios. In the aDMN, no group differences in metabolite ratios were found. In the pDMN, children with FND had lower NAA...
Our findings of multiple differences in neurometabolites in children with FND suggest dysfunction on multiple levels of the biological system: the neuron (lower NAA), the glial cell (lower mI), and in...
Functional neurological disorder (FND), formerly called conversion disorder, is a condition characterized by neurological symptoms that lack an identifiable organic purpose. These signs, which can con...
Functional Gait Disorders (FGD) are a common presentation of motor-Functional Neurological Disorders (motor-FND) that affect walking ability....
To provide a narrative review of the current literature on FGD....
A narrative overview of published literature was undertaken, based on a systematic search of relevant databases, authoritative texts and citation tracking....
FGD is multidimensional and disabling, with numerous phenotypes described in the literature, including 'knee buckling,' 'astasia-abasia' and 'excessive slowness.' Motor symptoms such as weakness or tr...
The relative contribution of motor and non-motor symptoms in FGD remains unknown, but it is likely that non-motor symptoms increase the illness burden and should be considered during assessment and tr...
To date, there have been no reviews bringing together evidence on the clinical management of functional neurological disorder (FND) and patients', caregivers', and healthcare workers' experiences. Thi...
Four databases were searched, and a consultation exercise was conducted to retrieve relevant records dated from September 2010 to September 2020. Articles documenting diagnostic methods, treatments or...
In total, 2756 records were retrieved, with 162 included in this review. The diagnostic methods reported predominantly included positive clinical signs, v-EEG and EEG. Psychological treatments and med...
The literature describing the clinical management for FND has increased considerably in recent times. A wide variety of diagnostic tools and treatments and interventions were found, with more focus be...
Acute health events, including infections, can trigger the onset of functional neurological disorder (FND). It was hypothesized that a proportion of people with long COVID might be experiencing functi...
A systematic review of studies containing original data on long COVID was performed. The frequency and characteristics of neurological symptoms were reviewed, looking for positive evidence suggesting ...
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Neurological symptoms are prevalent in long COVID, but poorly characterized. The similarities between some manifestations of long COVID and functional disorders triggered by acute illnesses are striki...
Functional neurological disorder (FND) is characterized by neurological symptoms that cannot be explained by a structural neurological cause. Among the different aetiological models that have been pro...
To report incidence, demographic and clinical characteristics, and symptom outcome of functional neurological disorder (FND) in children....
Children diagnosed with FND at a regional children's hospital were prospectively recruited by weekly active surveillance for 36 months. Demographic, clinical, and follow-up data were retrospectively e...
Ninety-seven children (age range 5-15 years) met the case definition of FND (annual incidence 18.3 per 100 000 children). Children with FND were likely to be female (n = 68 [70%]) and older (median 13...
At this regional centre, FND in children had a higher incidence than previously reported and a less optimistic outcome than in some other studies....