institut de myologie, myology, Pitié-Salpêtrière, paris, maladies rares,

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

institut de myologie, myology, Pitié-Salpêtrière, paris

  • 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.

 

Other aspects of patient management

institut de myologie, myology, Pitié-Salpêtrière, paris, consultation pédiatrique

Emergency situations

In emergency cases, patients contact the team leaders who, after possibly examining them, will orient them towards an intensive care unit

Genetic counselling

This is organised around a close collaboration between the neurologist or paediatrician, the geneticist, the obstetrician and the psychologist. 
In practice, two situations are encountered. For symptomatic patients, diagnosis of their genetic disease requires the confirmation of a gene mutation which gives further information about the mode of transmission and risks for descendants. A prenatal diagnosis might also be offered (in collaboration with Dr Vauthier of the obstetric and gynaecology department of the Salpêtrière Hospital). For asymptomatic patients, several successive consultations will be organised, bringing together the specialist in charge of the patient, the geneticist and the psychologist. The first consultation is designed to explain the advantages of possible genetic testing and to check out the patient’s motivations. If he/she wishes, the genetic sample is taken at a later date. The results (if desired by the patient) will be made known during a third consultation, this time with the geneticist.

Psychological management

In our unit, the role of the psychologist is essential. It is carried out by Madame Gargiulo in daily collaboration with the clinicians. Among the tasks of the psychologist are: the informing the patient of the diagnosis and its repercussions, testing for thymic problems encouraged by the disease and its management (in relation with a psychiatric team, if need be the team of Prof Allilaire, Salpêtrière Hospital), highlighting any psychological element in the symptoms, in particular for fibromyalgias, conversive states and the genetic counselling.

Information for the patient

This aspect of patient management is particularly valued in our team. It involves detailed verbal explanations of the diagnosis, prognosis, treatment and genetic aspects of each patient’s disease. We know by experience that this information needs to be repeated at each consultation, as it is complex and sometimes not understood. The diagnosis is often rejected as – for the patient – it represents a serious threat to their own future (loss of autonomy) as well as to that of their family (disease transmission) and thus generates a major anxiety.
Patient information is also based on a very comprehensive written report that summarises the different aspects of the disease, notably the diagnosis, mode of transmission, complications, and treatment and follow-up schedules. In normal circumstances, the report is addressed directly to the patient, who gives it to his/her general practitioner. For pluridisciplinary consultations, the patient receives the report at the end of the day of consultation.

Social management

This socio-administrative aspect of patient management is of particular concern to our team. Therefore, we have one half-time social worker specially trained to deal with the problems raised by myopathic patients. The work consists of helping to complete the paperwork necessary for the application to bear full costs of the disease, to obtain invalidity and longterm illness papers, to receive allowances and third party representation and/or to organise a stay in a physiotherapy centre or home hospitalisation. This activity represents several hours’ work per week which would otherwise be undertaken by the senior physicians.

Contacts with regional networks of AFM professionals

In each region of France, the AFM has set up a structure for assistance in the integration of myopathic patients. It has trained integration assistants to specialise in the management of different pathologies.
The medico-technical department of the AFM is a useful structure for advising patients about possible conversions to their homes or the acquisition of material adapted to their handicap. If necessary, patients are oriented towards these regional networks.