Title: | Overview of neuromuscular diseases |
Journal : | Fiche technique |
Authors: | Brignol TN ; Urtizberea JA ; Rivière H ; Gilby E |
Material Type: | AFM Publication |
Mention d'édition | 9e édition |
Publisher: | AFM-TELETHON, 03/2023 |
Series: | Fiche Technique Médico-Scientifique Savoir & Comprendre |
Size: | 76 p |
Languages: | English |
Keywords : | Charcot-Marie-Tooth disease ; congenital muscular dystrophy ; congenital myasthenic syndrome ; congenital myopathy ; distal myopathy ; dystrophinopathy ; Emery-Dreifuss muscular dystrophy ; facioscapulohumeral muscular dystrophy ; fibrodysplasia ossificans progressiva ; hereditary metabolic myopathy ; idiopathic inflammatory myopathy ; ion channel disease ; limb girdle muscular dystrophy ; mitochondrial myopathy ; myasthenia gravis ; myotonic dystrophy ; neuromuscular disease ; oculopharyngeal muscular dystrophy ; oculopharyngodistal muscular dystrophy ; spinal muscular atrophy |
Abstract: |
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. |
See also : |
E-copies (1)
FT_PrincipalesMNM_mars2023_eng.pdf Adobe Acrobat PDF |