questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Hydrolases
Glycosidases
Mannosidases
beta-Mannosidase
beta-Mannosidase : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Déficience enzymatique
Tests génétiques
Troubles neurologiques
Symptômes digestifs
Analyse d'urine
Tests sanguins
Symptômes
5
Retard de développement
Troubles cognitifs
Retard de langage
Difficultés d'apprentissage
Symptômes neurologiques
Convulsions
Prévention
5
Dépistage néonatal
Recommandations
Conseils génétiques
Transmission
Tests prénataux
Anomalies génétiques
Sensibilisation
Ressources éducatives
Traitements
5
Traitement symptomatique
Soins
Thérapie génique
Recherche
Médicaments
Déficience enzymatique
Thérapie physique
Éducation
Régime alimentaire
Gestion des symptômes
Complications
5
Complications neurologiques
Développement
Gestion des complications
Prévention
Risque accru
Troubles métaboliques
Qualité de vie
Complications
Surveillance
Professionnels de santé
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Consanguinité
Transmission
Mutations génétiques
Gène MANBA
Facteurs environnementaux
Origine génétique
Antécédents médicaux
Troubles métaboliques
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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 la beta-Mannosidase ?",
"position": 2,
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"text": "Des tests sanguins ou des biopsies tissulaires peuvent être utilisés pour mesurer l'activité enzymatique."
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},
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"@type": "Question",
"name": "Quels symptômes indiquent un besoin de test ?",
"position": 3,
"acceptedAnswer": {
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"@type": "Question",
"name": "La beta-Mannosidase est-elle mesurable dans l'urine ?",
"position": 4,
"acceptedAnswer": {
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"text": "Non, la beta-Mannosidase est principalement mesurée dans le sang ou les tissus."
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{
"@type": "Question",
"name": "Quel rôle joue la génétique dans le diagnostic ?",
"position": 5,
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en beta-Mannosidase ?",
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"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
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"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques aux enfants ?",
"position": 8,
"acceptedAnswer": {
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"text": "Les enfants peuvent présenter des retards de langage et des difficultés d'apprentissage."
}
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{
"@type": "Question",
"name": "Les symptômes sont-ils réversibles ?",
"position": 9,
"acceptedAnswer": {
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"text": "Non, les symptômes ne sont généralement pas réversibles sans traitement approprié."
}
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{
"@type": "Question",
"name": "Des symptômes neurologiques sont-ils fréquents ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des symptômes neurologiques comme des convulsions peuvent survenir."
}
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{
"@type": "Question",
"name": "Peut-on prévenir la déficience en beta-Mannosidase ?",
"position": 11,
"acceptedAnswer": {
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"text": "La déficience est génétique, donc la prévention n'est pas possible, mais le dépistage peut aider."
}
},
{
"@type": "Question",
"name": "Le dépistage néonatal est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le dépistage néonatal pour cette condition n'est pas systématique, mais peut être envisagé."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests prénataux disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests prénataux peuvent être effectués pour détecter des anomalies génétiques."
}
},
{
"@type": "Question",
"name": "Comment sensibiliser à cette condition ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "La sensibilisation peut se faire par des campagnes d'information et des ressources éducatives."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour la déficience en beta-Mannosidase ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais des soins symptomatiques peuvent être offerts."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais n'est pas encore disponible pour cette condition."
}
},
{
"@type": "Question",
"name": "Des médicaments spécifiques sont-ils disponibles ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Aucun médicament spécifique n'est approuvé pour traiter cette déficience enzymatique."
}
},
{
"@type": "Question",
"name": "Comment gérer les symptômes au quotidien ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une approche multidisciplinaire incluant des thérapies physiques et éducatives est recommandée."
}
},
{
"@type": "Question",
"name": "Les régimes alimentaires peuvent-ils aider ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un régime alimentaire spécifique peut aider à gérer certains symptômes, mais pas la maladie."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications neurologiques, digestives et de développement peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais pas toutes peuvent être évitées."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir un risque accru de troubles métaboliques et neurologiques."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Comment surveiller les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une surveillance régulière par des professionnels de santé est essentielle pour gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux de déficience enzymatique."
}
},
{
"@type": "Question",
"name": "La consanguinité augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la consanguinité peut augmenter le risque de transmission de la déficience."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles un facteur ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations spécifiques dans le gène MANBA sont liées à la déficience en beta-Mannosidase."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la déficience en beta-Mannosidase est principalement d'origine génétique."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents médicaux familiaux de troubles métaboliques peuvent influencer le risque."
}
}
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}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/04/2025
Contenu vérifié selon les dernières recommandations médicales
8 publications dans cette catégorie
Affiliations :
The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.
Publications dans "beta-Mannosidase" :
Beta
Scandinavian journal of medicine & science in sports
Beta
Drug testing and analysis
2020-01-19
The beta
The Journal of physiology
2021-11-08
Beta
Drug testing and analysis
2024-08-16
Beta
Drug testing and analysis
2019-04-03
Voir toutes les publications (8)
6 publications dans cette catégorie
Affiliations :
The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.
Publications dans "beta-Mannosidase" :
Beta
Scandinavian journal of medicine & science in sports
Beta
Drug testing and analysis
2020-01-19
Beta
Drug testing and analysis
2024-08-16
Beta
Scandinavian journal of medicine & science in sports
2022-04-29
Effect of beta
Scandinavian journal of medicine & science in sports
2019-09-13
Voir toutes les publications (6)
5 publications dans cette catégorie
Affiliations :
The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.
Publications dans "beta-Mannosidase" :
Beta
Scandinavian journal of medicine & science in sports
Beta
Drug testing and analysis
2020-01-19
Beta
Scandinavian journal of medicine & science in sports
2022-04-29
Effect of beta
Scandinavian journal of medicine & science in sports
2019-09-13
Inhaled beta
Scandinavian journal of medicine & science in sports
2023-10-25
4 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of York, Heslington, York YO10 5DD, United Kingdom.
Publications dans "beta-Mannosidase" :
4 publications dans cette catégorie
Affiliations :
Department of Glycobiology, Institute of Chemistry, Centre for Glycomics, Slovak Academy of Sciences, Dúbravská Cesta 9, 845 38, Bratislava, Slovak Republic.
Publications dans "beta-Mannosidase" :
3 publications dans cette catégorie
Publications dans "beta-Mannosidase" :
3 publications dans cette catégorie
Affiliations :
School of Medicine, University of Tasmania, Australia.
Publications dans "beta-Mannosidase" :
Beta
Drug testing and analysis
2020-01-19
Beta
Drug testing and analysis
2024-08-16
Beta
Drug testing and analysis
2019-04-03
3 publications dans cette catégorie
Affiliations :
Institute of Chemistry, Center for Glycomics, Slovak Academy of Sciences, Dúbravská cesta 9, 845 38 Bratislava, Slovakia.
Medical Vision, Civic Research Association, Záhradnícka 4837/55, 82108 Bratislava, Slovakia.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
School of Chemistry and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3010, Australia. Electronic address: sjwill@unimelb.edu.au.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Laboratory of Glycobiology, Hirszfeld Institute of Immunology and Experimental Therapy, Weigla 12, 53-114 Wroclaw, Poland.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109, USA.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109, USA.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan School of Medicine, Ann Arbor, MI, USA. Electronic address: yzwang@umich.edu.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric General and Thoracic Surgery, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Rangos Research Center Animal Imaging Core, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Histology Core Laboratory Manager, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
Neuropsychology is important in differential diagnosis, treatment planning, surgical work-up, and support of patients with movement disorders and their families. The cognitive profiles of several move...
On the basis of both scientific progress and popular lore, there is growing optimism in the therapeutic potential of cannabis (marijuana) and cannabinoid-based chemicals for movement disorders. There ...
In recognition of the high interest and controversial nature of this subject, the meeting committee of the International Parkinson and Movement Disorders Society arranged for a talk on cannabis at the...
The endocannabinoid system is strongly tied to motor function and dysfunction, with basic research suggesting several promising therapeutic targets related to cannabinoids for movement disorders. Clin...
Further research is greatly needed to better understand the actual clinical benefits and long-term side effects of medical cannabis products for movement disorders indications and populations....
Functional movement disorder (FMD) is a complex neuropsychiatric syndrome, encompassing abnormal movements and weakness, and is a common cause of potentially disabling neurological symptoms. It is vit...
Motor symptoms in functional movement disorders (FMDs) are experienced as involuntary but share characteristics of voluntary action. Clinical and experimental evidence indicate alterations in monitori...
The objective of this study was to test the prediction that FMDs are associated with a reduced ability to make accurate (metacognitive) judgments about self-performed movements....
We compared 24 patients with FMD (including functional gait disturbance, functional tremor, and functional tics) with 24 age- and sex-matched healthy control subjects in a novel visuomotor-metacogniti...
Patients and control subjects showed comparable motor performance, response accuracy, and use of the confidence scale. However, visuomotor sensitivity in the trajectory judgment was reduced in patient...
Patients with FMD exhibited deficits both when making visuomotor decisions about their own movements and in the metacognitive evaluation of these decisions. Reduced metacognitive insight into voluntar...
The purpose of this review is to outline the impact of the COVID-19 pandemic on movement disorder holistic care, particularly in the care of people with Parkinson disease (PWP)....
As the pandemic unfolds, a flurry of literature was published regarding the impact of COVID-19 on people with Parkinson disease including the direct impact of infection, availability of ambulatory car...
COVID-19 has impacted the care of PWP in numerous ways. Recognizing infection in PWP poses challenges. Specific long-term complications, including emerging reports of long COVID syndrome is a growing ...
Drug-induced movement disorders (DIMDs) are most commonly associated with typical and atypical antipsychotics. However, other drugs such as antidepressants, antihistamines, antiepileptics, antiarrhyth...
Post-stroke movement disorders (PSMD) encompass a wide array of presentations, which vary in mode of onset, phenomenology, response to treatment, and natural history. There are no evidence-based guide...
To survey current opinions and practices on the diagnosis and treatment of PSMD....
A survey was developed by the PSMD Study Group, commissioned by the International Parkinson's and Movement Disorders Society (MDS). The survey, distributed to all members, yielded a total of 529 respo...
Parkinsonism (68%), hemiballismus/hemichorea (61%), tremor (58%), and dystonia (54%) were by far the most commonly endorsed presentation of PSMD, although this varied by region. Basal ganglia stroke (...
Regionally varying opinions and practices on PSMD highlight gaps in (and mistranslation of) epidemiologic and therapeutic knowledge. Multicenter registries and prospective community-based studies are ...
The relationship between antiseizure drugs and movement disorders is complex and not adequately reviewed so far. Antiseizure drugs as a treatment for tremor and other entities such as myoclonus and re...
Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The co...
To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases....
We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022....
Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG...
Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a...
Peripherally-induced movement disorders (PIMD) should be considered when involuntary or abnormal movements emerge shortly after an injury to a body part. A close topographic and temporal association b...
A comprehensive PubMed search through a broad range of keywords and combinations was performed in February 2023 to identify relevant articles for this narrative review....
The spectrum of the phenomenology of PIMD is broad and it encompasses both hyperkinetic and hypokinetic movements. Hemifacial spasm is probably the most common PIMD. Others include dystonia, tremor, p...
There is considerable heterogeneity among PIMD in terms of severity and nature of injury, natural course, association with pain, and response to treatment. As some patients may have co-existing functi...