Description of the management of neuromuscular diseases
Management procedure
Neuromuscular diseases are numerous and complex. Thus, they amply justify the coordinated patient management system that has been put in place, taking one day or more. This comprises the following stages :
- identification of the disease remains difficult in many cases. It is based on a clinical check-up and many supplementary examinations (muscle imaging, electrophysiology, neuromuscular or muscle biopsies, metabolic tests and genetic analyses). In many cases it requires a high level of expertise combining wide clinical experience as well as the involvement of a state-of-the-art research laboratory.
- screening and treatment of complications (muscle contractures and orthopaedic deformations, breathing difficulties, cardiopathy, swallowing disorders, pain, immunitary disorders etc)
- treatment of the disease itself where this is possible (myasthenia, myositis, severe and chronic dysimmune polyneuropathies etc)
- improvement of the quality of life of persons affected with these diseases : social, professional and school integration, technical help, psychological help for the patient and his/her family. This assistance is permanent and personalised, and is aimed at limiting the negative functional and life consequences of neuromuscular diseases. The AFM plays a very important role here, providing information and technical and social home help, which is carried out by national networks of professionals.
Consultation steps
The initial consultation is extremely exhaustive, and is based on the clinical history, possible family links and an in-depth clinical examination in order to evaluate characteristic signs and their degrees of severity. A comprehensive synthesis of this first consultation is written in the form of a report. Several documents need to be completed: a detailed observation report, genealogical tree, physiotherapy prescription, request for agreement to bear full medical costs, various certificates (in particular, invalidity certificates) and a future hospitalisation dossier.
During a one-day hospitalisation, the patient follow one of those three objectives : a diagnostic check-up, the speedy management of a recently-diagnosed muscle disease or the in-depth follow-up of an already-diagnosed muscle condition. Non-pluridisciplinary consultations and pluridisciplinary consultations for adults and children are provided, in function of the initial diagnostic hypothesis.
More prolonged hospitalisation (a week, sometimes longer) in cases where the diagnostic check-up proves to be particularly complex or a particularly delicate course of treatment needs to be established.
The management of neuropathies is the responsibility of Dr O. Dubourg, neurologist and Dr C. Gilardeau, physiotherapy physician.
The management of inflammatory muscular diseases is mainly carried out by the Internal Medicine Department, which forms part of the Centre for Reference for muscular pathology and is directed by Prof S. Herson.
Update: March 2010
