Titre : | Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview : Synonyms: Distal Hereditary Motor Neuropathy (dHMN), Hereditary Motor/Sensory Neuropathy (HMSN) |
Revue : | GeneReviews® [Internet] |
Auteurs : | Bird TD |
Type de document : | Article |
Année de publication : | 25/04/2024 |
Langues: | Anglais |
Mots-clés : | article de type review ; classification des maladies ; conseil génétique ; description de la maladie ; diagnostic ; diagnostic différentiel ; étiologie ; maladie de Charcot-Marie-Tooth ; maladie du système nerveux périphérique ; phénotype ; prise en charge thérapeutique ; tableau clinique |
Résumé : |
Initial Posting: September 28, 1998; Last Revision: April 25, 2024.
The purpose of this overview is to increase the awareness of clinicians regarding Charcot-Marie-Tooth (CMT) hereditary neuropathy, its causes, and its management. The following are the goals of this overview. Goal 1.Describe the clinical characteristics of CMT hereditary neuropathy. Goal 2.Review the causes of CMT hereditary neuropathy. Goal 3.Provide an evaluation strategy to identify the cause of CMT hereditary neuropathy in a proband (when possible). Goal 4.Inform genetic counseling of family members of an individual with CMT hereditary neuropathy. Goal 5.Review management of CMT hereditary neuropathy. |
Lien associé : | Texte complet disponible en accès libre sur Bookshelf GeneReviews® |
Pubmed / DOI : | Pubmed : 20301532 |
N° Profil MNM : | 2024032 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/20301532 |