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"@type": "Question",
"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,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests biochimiques spécifiques mesurent l'activité de la glucan 1,4-beta-glucosidase."
}
},
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"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème enzymatique ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes comme la fatigue, des douleurs musculaires et des troubles digestifs peuvent apparaître."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser l'imagerie pour diagnostiquer des troubles liés à cette enzyme ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'imagerie peut aider à évaluer des complications musculaires, mais pas le déficit enzymatique."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en glucan 1,4-beta-glucosidase ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent fatigue, faiblesse musculaire et troubles de la digestion."
}
},
{
"@type": "Question",
"name": "Les douleurs musculaires sont-elles fréquentes ?",
"position": 7,
"acceptedAnswer": {
"@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": {
"@type": "Answer",
"text": "Des troubles digestifs comme des ballonnements et des douleurs abdominales peuvent survenir."
}
},
{
"@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."
}
},
{
"@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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}
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}
There have been suggestions that Long COVID might be purely functional (meaning psychological) in origin. Labelling patients with neurological dysfunction in Long COVID as having functional neurologic...
This is a multicenter retrospective EMR-based chart review of 88 patients aged 3-21 years admitted for evaluation of functional neurologic disorder (FND). We sought to establish characteristics associ...
FND is a disabling disease that accounts for 5 to 10% of the reason for consultation in neurology. However, young physicians often say they have little or no training in their management....
The aim of the present study was to assess whether French junior neurologists, psychiatrists and physical and rehabilitation medicine (PRM) specialists received teaching on FND during their medical st...
The survey was distributed by the means of a Google form questionnaire to specialist registrars and young specialists with the help of resident's organizations....
568 respondents from the 3 specialties were included in the study. Most respondents (72.4%) were specialists registrars. Almost half of the respondents (45.5%) answered they never received any teachin...
Better training would allow clinicians to make a diagnosis earlier, to better explain it to patients, and to limit the costs associated with diagnosis delays. A better training of clinicians about FND...
This survey shows that there is a gap about FND in the training programs in the medical studies and during the specialization training of young doctors in France....
To analyze the interrelated factors that have led to the striking increase in functional movement disorders in recent years, with a focus on functional tic-like behaviours (FTLB)....
The sudden onset of FTLB has been widely observed in several countries since the beginning of the SARS-CoV-2 pandemic, whereas it was previously very rarely reported. Pandemic-related FTLB typically o...
We suggest FTLB are due to a combination of predisposing factors (high genetic and epigenetic risk for anxiety and depression, negative past experiences) and precipitating factors (pandemic and its im...
Functional neurological disorders (FND), a subtype of functional disorders (FD), are a frequent motive for neurology referrals. The various presentations and the unknown physiopathology of FD have led...
We examined the FD-related articles published from 1960 to 2020 in PubMed and PsycINFO databases. We searched for: psychogenic, somatization, somatoform, medically unexplained symptoms, hysteria, conv...
We found that none of the terms is prevailing in the recent medical literature. We observed three trends in the use rates: stability, increase, and decrease of use over time. While most of the terms w...
We found a dynamic and evolving use of the different terms describing FD in the last 60 years. Despite the tendency to use the term functional in the recent highly cited publications, its low prevalen...
Functional neurological disorder (FND) is frequently encountered in clinical practice but commonly misdiagnosed, which might lead to higher direct costs for the health care system. The investigators a...
Consecutive patients attending a general neurology clinic were recruited and underwent a structured assessment aimed to collect information pertaining to their demographic and clinical characteristics...
A total of 155 consecutive patients were recruited; of these, 18.6% had FND, 55.84% had one or more other neurological disorder (OND), and 27.10% presented with comorbid FND and OND. The total prediag...
Delayed diagnosis of FND significantly affects health care system costs, and raising awareness about FND to improve the diagnostic process and outcomes is necessary....
Patients with functional neurological (conversion) disorder (FND) have historically been difficult to treat. Outcomes have been studied in research trials, documenting improvements; however, limited i...
We aimed to examine clinical outcomes in outpatients with FND treated with the Neuro-Behavioral Therapy (NBT) approach. These uncontrolled setting treatment data could complement more structured clini...
We conducted a retrospective chart review of consecutive patients diagnosed with FND, ages 17 to 75, who were treated with the NBT workbook at the Rhode Island Hospital Behavioral Health clinic betwee...
Baseline characteristics are available for 107 patients. Mean age at FND symptom onset was 37 years. Patients had a mix of FND semiologies, which included Psychogenic Nonepileptic Seizures (71%), Func...
We describe a well-characterized sample of patients with various and mixed FND semiologies, who received manualized therapy, NBT, in an outpatient clinic. Patients had similar psychosocial profiles to...
In a cohort of adults with Functional Neurological Disorder (FND), we aim to: METHODS: 91 patients participating in a FND 5-week outpatient program completed baseline self-report questionnaires for to...
36 patients (40%) were AQ-10 positive (scoring ≥6 on AQ-10). A further 36 patients (across AQ-10 positive and AQ-10 negative groups) (40%) screened positive for alexithymia. AQ-10 positive patients sc...
We demonstrate a high proportion of autistic and alexithymic traits, in adults with FND. A higher prevalence of autistic traits may highlight a need for specialised communication approaches in FND man...
Neurology in Japan did not develop from the separation of neuropsychiatry into neurology and psychiatry, which casts a shadow on the present situation of Japanese neurology. Functional neurological di...
Previous studies with adults suggest that aberrant communication between neural networks underpins functional neurological disorder (FND). The current study adopts a data-driven approach to investigat...
31 children with mixed FND and 33 age- and sex-matched healthy controls completed resting-state fMRI scans. Whole-brain independent component analysis (pFWE < 0.05) was then used to identify group dif...
Children with FND showed wide-ranging connectivity changes in eight independent components corresponding to eight resting-state neural networks: language networks (IC6 and IC1), visual network, fronto...
Children with FND demonstrate changes in resting-state connectivity. Identified network alterations underpin a broad range of functions typically disrupted in children with FND. This study complements...
