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Maladies du système nerveux
Maladies neuromusculaires
Maladies musculaires
Myopathies congénitales structurales
Myopathie à axe central
Myopathie à axe central : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment diagnostique-t-on la myopathie à axe central ?",
"position": 1,
"acceptedAnswer": {
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"text": "Le diagnostic repose sur l'examen clinique, l'électromyogramme et la biopsie musculaire."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent identifier des mutations dans le gène RYR1, associé à cette myopathie."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques sont observés ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "On observe souvent une faiblesse musculaire proximale et des anomalies dans les biopsies musculaires."
}
},
{
"@type": "Question",
"name": "L'IRM est-elle utile pour le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'IRM peut montrer des anomalies musculaires caractéristiques de la myopathie à axe central."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'historique familial ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un historique familial de myopathies peut orienter le diagnostic vers une origine génétique."
}
},
{
"@type": "Question",
"name": "Quels sont les principaux symptômes ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent faiblesse musculaire, fatigue et parfois des douleurs musculaires."
}
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{
"@type": "Question",
"name": "La myopathie affecte-t-elle tous les muscles ?",
"position": 7,
"acceptedAnswer": {
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"text": "Elle touche principalement les muscles proximaux, comme ceux des hanches et des épaules."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes respiratoires ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans certains cas, la faiblesse musculaire peut affecter les muscles respiratoires."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent apparaître dès l'enfance ou à l'âge adulte, selon les cas."
}
},
{
"@type": "Question",
"name": "Des troubles de la marche sont-ils fréquents ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la faiblesse musculaire peut entraîner des difficultés à marcher ou à se lever."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir la myopathie à axe central ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Étant génétique, il n'existe pas de prévention, mais un diagnostic précoce aide à la gestion."
}
},
{
"@type": "Question",
"name": "Le dépistage est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le dépistage génétique peut être conseillé pour les familles à risque de transmission."
}
},
{
"@type": "Question",
"name": "Des conseils de vie peuvent-ils aider ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des conseils sur l'exercice et la nutrition peuvent améliorer la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Les activités physiques sont-elles bénéfiques ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des activités adaptées peuvent aider à maintenir la force musculaire et la mobilité."
}
},
{
"@type": "Question",
"name": "Les consultations régulières sont-elles nécessaires ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des suivis réguliers permettent d'ajuster les traitements et surveiller l'évolution."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais la physiothérapie aide à maintenir la force musculaire."
}
},
{
"@type": "Question",
"name": "Les médicaments sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour gérer les symptômes, mais leur efficacité varie."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle une option ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La chirurgie n'est généralement pas indiquée, sauf pour des complications spécifiques."
}
},
{
"@type": "Question",
"name": "Comment la rééducation aide-t-elle ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "La rééducation physique aide à améliorer la fonction musculaire et la qualité de vie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques explorent des thérapies géniques et des traitements ciblés."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des problèmes respiratoires et des déformations musculo-squelettiques."
}
},
{
"@type": "Question",
"name": "La myopathie peut-elle affecter la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la faiblesse musculaire peut limiter les activités quotidiennes et l'autonomie."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque de cardiomyopathie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines formes de myopathie peuvent être associées à des problèmes cardiaques."
}
},
{
"@type": "Question",
"name": "Les infections sont-elles plus fréquentes ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les infections peuvent survenir en raison de la faiblesse musculaire et de l'immobilité."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une prise en charge multidisciplinaire est essentielle pour gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de myopathies augmentent le risque de développer cette maladie."
}
},
{
"@type": "Question",
"name": "L'âge est-il un facteur de risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'âge d'apparition peut varier, mais les symptômes se manifestent souvent dans l'enfance."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les myopathies peuvent affecter les deux sexes, mais certaines formes sont plus fréquentes chez les hommes."
}
},
{
"@type": "Question",
"name": "Des facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
},
{
"@type": "Question",
"name": "Les maladies associées augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies auto-immunes peuvent coexister avec la myopathie, mais leur lien n'est pas direct."
}
}
]
}
]
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Accurate identification and pronunciation of nonnative speech sounds can be particularly challenging for adult language learners. The current study tested the effects of a brief musical training combi...
This study examines how variation in F0 and intensity impacts the perception of American English vowels. Both properties vary intrinsically as a function of vowel features in the speech production lit...
The aim of this study was to assess the effect of eight different facemasks on speech perception and listening effort in listeners with normal hearing (NH) and hearing loss by manipulating both mask t...
Forty adults listened to Quick Speech-in-Noise Test sentences recorded by a female talker through eight different facemasks including a baseline condition with no mask. Listeners were tested in the so...
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The impact of different types of facemasks on speech perception in noise was demonstrated in this study indicating that as the SNR was reduced, listening effort increased and speech perception perform...
Cochlear implants are neuroprosthetic devices that can restore hearing in people with severe to profound hearing loss by electrically stimulating the auditory nerve. Because of physical limitations on...
Characterizing and comparing speech recognition development in children with cochlear implants (CIs) is challenging because of variations in test type. This retrospective cohort study modified the Ped...
Postimplantation speech recognition scores from 31 children with prelingual, severe-to-profound hearing loss who received CIs were analyzed (12 with unilateral CI [UniCI], 13 with sequential bilateral...
While speech recognition improved considerably for children following implantation, the growth rates and scores at the plateau were highly variable. In first implanted ears, later implantation was ass...
The modified PROSPER score could be used clinically to track speech recognition development in children with CIs, to assess influencing factors, and to assist in developing and evaluating patient-spec...
https://doi.org/10.23641/asha.20113538....
Although children develop categorical speech perception at a very young age, the maturation process remains unclear. A cross-sectional study in Mandarin-speaking 4-, 6-, and 10-year-old children, 14-y...
The purpose of this study was to explore the relationship between speech perception, speech production, and vocabulary abilities in children with and without speech sound disorders (SSDs), analyzing t...
Sixty-one Australian English-speaking children aged 48-69 months participated in this study. Children's speech production abilities ranged along the continuum from SSDs through to typical speech. Thei...
When analyzing data by group, there was no significant difference between the speech perception ability of children with SSDs and that of children without SSDs. Children with above-average vocabularie...
Results from this study provide further insight into the complex relationship between speech perception, speech production, and vocabulary abilities in children. While there is a clinical and importan...
https://doi.org/10.23641/asha.22229674....
In the context of music and speech perception, this study aimed to assess the effect of variation in one of two auditory attributes-pitch contour and timbre-on the perception of the other in prelingua...
Nine prelingually deafened CI users, aged 8.75-22.17 years, completed a melodic contour identification (MCI) task using stimuli of piano notes or sung speech with a fixed timbre (same word for each no...
MCI was significantly poorer for the mixed timbre condition. Speech perception was significantly poorer for the fixed and mixed pitch conditions than for the naturally intonated condition. Auditory ST...
Findings suggest that prelingually deafened CI users show similar trends of normal-hearing peers for the effect of variation in pitch contour or timbre on the perception of the other, and that cogniti...
https://doi.org/10.23641/asha.21217937....
The goal of this study was to use cone-beam computed tomography to locate the electrode-modiolus distance (EMD) and correlate this with speech perception in cochlear implant (CI) recipients of the 31....
Retrospective review....
Forty-five child CI recipients with prelingual profound sensorineural hearing loss of inserted 31.5-mm LW arrays listening with a CI-alone device....
Stepwise forward multiple linear regression was performed to control and reduce the variability in implant performance to determine whether EMD affects speech perception....
Electrode location (angular insertion depth [AID], EMD), together with the electrode impedance (EI), surgical approach, sex, CI age, and preimplant hearing aid usage were estimated as independent vari...
EMD and CI age were predictive variables for PEACH/MUSS. A negative correlation was found between AID and EMD (r = -0.56, p < 0.01), whereas EMD had a moderately positive correlation with EI (r = 0.32...
The best "location-related" predictor of postoperative speech perception was EMD with a 31.5-mm array among CI-alone users....
Speech-in-noise perception seems aberrant in individuals with autism spectrum disorder (ASD). Potential aggravating factors are the level of linguistic skills and impairments in auditory temporal proc...