Titre : | Overview of neuromuscular diseases 2023 |
Revue : | Fiche technique |
Auteurs : | Brignol TN ; Urtizberea JA ; Rivière H ; Gilby E |
Type de document : | Publication AFM |
Mention d'édition | 9e édition |
Editeur : | AFM-TELETHON, 03/2023 |
Collection : | Fiche Technique Médico-Scientifique Savoir & Comprendre |
Pages : | 76 p |
Langues: | Anglais |
Mots-clés : | amyotrophie spinale ; canal ionique (maladie liée à) ; dystrophie musculaire congénitale ; dystrophie musculaire d'Emery-Dreifuss ; dystrophie musculaire des ceintures ; dystrophie musculaire facio-scapulo-humérale ; dystrophie musculaire oculopharyngée ; dystrophie musculaire oculopharyngodistale ; dystrophie myotonique ; dystrophinopathie ; fibrodysplasie ossifiante progressive ; maladie de Charcot-Marie-Tooth ; maladie neuromusculaire ; myasthénie auto-immune ; myopathie congénitale ; myopathie distale ; myopathie inflammatoire idiopathique ; myopathie métabolique héréditaire ; myopathie mitochondriale ; syndrome myasthénique congénital |
Résumé : |
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit section and some other sections, the proteins involved are depicted in an illustration. The ORPHAcodes (Orphanet) and OMIM® codes
(Online Mendelian Inheritance In Man®) for the diseases are provided where they exist. The groups of neuromuscular diseases are presented in alphabetical order. There is an index at the end of the document that provides an alphabetical list of the neuromuscular diseases covered in this data sheet, with the associated proteins and genes listed in separate indexes. |
Voir aussi : |
Documents numériques (1)
![]() FT_PrincipalesMNM_mars2023_eng.pdf Adobe Acrobat PDF |