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Malformations et maladies congénitales, héréditaires et néonatales
Maladies génétiques congénitales
Maladies neurodégénératives héréditaires
Neuropathies héréditaires sensitives et autonomes
Neuropathies héréditaires sensitives et autonomes : Questions médicales fréquentes
Diagnostic
5
Neuropathies héréditaires
Tests génétiques
Électromyographie
Biopsie nerveuse
Antécédents familiaux
Neuropathies héréditaires
Imagerie médicale
Diagnostic différentiel
Symptômes neurologiques
Neuropathies
Symptômes
5
Symptômes
Neuropathies héréditaires
Classification des maladies
Neuropathies
Troubles digestifs
Système nerveux autonome
Progression des maladies
Neuropathies
Symptômes cutanés
Neuropathies
Prévention
5
Prévention
Dépistage génétique
Conseil génétique
Neuropathies héréditaires
Prévention des blessures
Mode de vie sain
Tests prénataux
Neuropathies héréditaires
Vaccination
Prévention des maladies
Traitements
5
Traitement symptomatique
Neuropathies héréditaires
Analgésiques
Anticonvulsivants
Physiothérapie
Réhabilitation
Thérapie génique
Essais cliniques
Soins palliatifs
Gestion des symptômes
Complications
5
Complications graves
Urgences médicales
Gestion des symptômes
Prévention des complications
Qualité de vie
Complications
Complications psychologiques
Santé mentale
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Âge
Neuropathies héréditaires
Facteurs environnementaux
Exacerbation des symptômes
Sexe
Prévalence des maladies
Habitudes de vie
Prévention des complications
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"text": "Le diagnostic repose sur l'examen clinique, les antécédents familiaux et des tests génétiques."
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"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
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"text": "Des électromyogrammes (EMG) et des biopsies nerveuses peuvent être réalisés."
}
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"@type": "Question",
"name": "Les antécédents familiaux sont-ils importants ?",
"position": 3,
"acceptedAnswer": {
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"name": "Peut-on utiliser l'imagerie pour le diagnostic ?",
"position": 4,
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"@type": "Question",
"name": "Quels symptômes initiaux peuvent alerter ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des douleurs, des engourdissements ou des faiblesses dans les membres peuvent alerter."
}
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"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent des douleurs, des pertes de sensation et des dysfonctionnements autonomes."
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon les types ?",
"position": 7,
"acceptedAnswer": {
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"text": "Oui, les symptômes peuvent varier selon le type de neuropathie héréditaire."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes digestifs ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles digestifs peuvent survenir en raison de l'atteinte des nerfs autonomes."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils progressifs ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la plupart des neuropathies héréditaires présentent une progression lente des symptômes."
}
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{
"@type": "Question",
"name": "Peut-on avoir des symptômes cutanés ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cutanées comme des ulcères peuvent se développer en raison de la perte de sensation."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les neuropathies héréditaires ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile car ces neuropathies sont génétiques, mais le dépistage peut aider."
}
},
{
"@type": "Question",
"name": "Le conseil génétique est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le conseil génétique peut aider les familles à comprendre les risques de transmission."
}
},
{
"@type": "Question",
"name": "Y a-t-il des mesures préventives à prendre ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Éviter les traumatismes nerveux et maintenir un mode de vie sain peut être bénéfique."
}
},
{
"@type": "Question",
"name": "Les tests prénataux sont-ils possibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests prénataux peuvent être réalisés pour certaines formes héréditaires."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles importantes ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas les neuropathies, mais protègent contre d'autres maladies."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais des thérapies symptomatiques peuvent aider."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils soulager la douleur ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des analgésiques et des anticonvulsivants peuvent être prescrits pour la douleur."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle utile ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à maintenir la force musculaire et la mobilité."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques sur des thérapies géniques sont en cours pour certaines neuropathies."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins palliatifs peuvent être nécessaires pour gérer les symptômes avancés."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des infections, des ulcères et des problèmes de mobilité."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles graves ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être graves et nécessiter une attention médicale immédiate."
}
},
{
"@type": "Question",
"name": "Peut-on éviter les complications ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une gestion proactive des symptômes peut aider à réduire le risque de complications."
}
},
{
"@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": "Y a-t-il des complications psychologiques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'anxiété et la dépression peuvent survenir en raison des défis liés à la maladie."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de neuropathies héréditaires augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines neuropathies se manifestent à l'âge adulte, augmentant le risque avec l'âge."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent exacerber les symptômes, mais ne causent pas la maladie."
}
},
{
"@type": "Question",
"name": "Le sexe joue-t-il un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines neuropathies peuvent avoir une prévalence différente selon le sexe, mais c'est variable."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie influencent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire le risque de complications, mais pas d'apparition."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 11/03/2026
Contenu vérifié selon les dernières recommandations médicales
5 publications dans cette catégorie
Affiliations :
Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
4 publications dans cette catégorie
Affiliations :
Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.
Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
4 publications dans cette catégorie
Affiliations :
Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
3 publications dans cette catégorie
Affiliations :
APHP, GH-Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires, Paris, France.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.
JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
2 publications dans cette catégorie
Affiliations :
RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
Publications dans "Neuropathies héréditaires sensitives et autonomes" :
Homozygous loss-of-function mutations in the RETREG1 gene result in Hereditary Sensory Autonomic Neuropathy Type 2B. Clinical features include pain loss, autonomic disturbances, and upper motor neuron...
We evaluated the clinical and genetic features of seven patients from four families with RETREG1 variants....
Five patients were male. The median age of disease onset was 7.00 ± 2.81 (between 2 and 10 years). A combination of painless wounds, trophic changes, and foot ulcerations was the presenting symptom in...
In our study, all patients showed signs and symptoms consistent with pain insensitivity. Although shadowed by sensory symptoms, motor signs were noted in our patients. Further studies are necessary to...
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through whole-exome sequencing comb...
Inherited painless neuropathies arise due to genetic insults that either block the normal signaling of or destroy the sensory afferent neurons in the dorsal root ganglion (DRG) responsible for transdu...
A 52-year-old man had developed hearing loss since childhood, as well as recurrent foot ulcers and osteomyelitis since his forties. He presented with gait disturbance and dysarthria that had worsened ...
Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds re...
Hereditary sensory and autonomic neuropathies (HSAN) represent a group of genetic diseases affecting the peripheral nervous system. In humans, at least 16 loci have been associated with the disorder b...
Orofacial Pain (OFP) affects 15% of the general population. OFP conditions can be myofascial, also known as temporomandibular disorders (TMDs) or neuropathic. The underlying pathophysiology in several...
This is a retrospective study (2018-2020) of patients from the SFN registry, Massachusetts General Hospital, Boston, USA, for the presence of OFP. All patients were included. Primary outcome: Prevalen...
Charts of 450 patients with sensory and autonomic neuropathies were reviewed. 22.67% (n=102) had OFP. The mean (range) age at biopsy in patients with OFP was 48.36 (20-81) years, female: male ratio 3....
OFP and sensory neuropathies can be overlapping conditions. Patients presenting with concomitant TMD and dysautonomia can be further tested for SFN. This can further help us understand a correlation i...
A higher incidence of neural dysfunction in people with obesity has been described. We determined the prevalence of neuropathic lesions in obese women and evaluated their potential association with an...
In our cross-sectional study, we enrolled female patients with obesity and without diabetes before obesity treatment. Voluntary female subjects were controls with a normal body mass index (BMI). Auton...
71 patients (mean ± SD; age: 36.1 ± 8.3 years; BMI: 40.2 ± 8.5 kg/m...
Peripheral sensory neuronal and sudomotor function impairments were detected in female patients with obesity compared to the controls with normal BMI. Cardiovascular autonomic dysfunction was also rev...
Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelinatio...
Families from Khyber Pakhtunkhwa with at least two members showing HMSN symptoms, who had not previously undergone genetic analysis, were included. Referrals for genetic investigations were based on c...
WES identified homozygous pathogenic variants in GDAP1 (c.310 + 4 A > G, p.?), SETX (c.5948_5949del, p.(Asn1984Profs*30), IGHMBP2 (c.1591 C > A, p.(Pro531Thr) and NARS1 (c.1633 C > T, p.(Arg545Cys) as...
This study expands the molecular genetic spectrum of HMSN and HMSN plus type neuropathies in Pakistan and facilitates accurate diagnosis, genetic counseling, and clinical management for affected famil...
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal...