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.
Access the document Overview of neuromuscular diseases
