There are many neuromuscular diseases (more than 200 in all) and almost all of genetic origin. These diseases affect children as well as adults.
They are diseases of the muscle or of its motor innervation (damage to the motor unit). What results is damage to the motor functions (moving, breathing etc – anything which is done with muscles).
Certain neuromuscular diseases are extremely serious, while others allow subjects to lead almost-normal lives.
Also, their expression is variable – for the same diagnosis, the symptoms can vary from one person to the next.
Why ?
All the cells of an organism contain the same genetic information (the genotype) in the form of DNA (making up the genome). The expression of genes contained in the genome leads to the production of proteins which ensures the functioning of cells, with specificities according to the organs.
Therefore, the functioning of muscles also depends on numerous proteins.
These proteins are localised and act at different levels of the motor unit – at the level of the muscle itself, the cell body or motor nerve axon which excites the muscle, or the junction between the nerve and the muscle.
The appearance of most neuromuscular diseases is due to genetic modifications (mutations in certain genes) which lead to non-functional or partly-functional protein, or even no protein at all.
The neuromuscular disease will be different according to the site of the protein affected by the mutation.
What are the symptoms and consequences ?
There are various symptoms. These diseases lead to a decrease of muscle strength. Some of them are progressive, others remain stable for several years.
The consequences of muscle deficiency :
At the motor level • They are variable, ranging from walking difficulty (difficult gait, precarious balance etc) to permanent use of a manual or electric wheelchair
• The motor damage to upper limbs is also variable – for some, these functions are preserved while others experience writing difficulties justifying the use of technical aids in certain situations (arm supports etc)
• The oral and facial areas can be affected, leading to phonation and swallowing problems and a lack of facial mobility with consequences for verbal and non-verbal communication.
At the orthopaedic level • The muscle deficiency impacts on the growing skeleton, causing orthopaedic deformities. These are corrected by surgical appliances (splints, corsets etc) or by corrective surgical operations.
Sometimes a particular adaptation has to be made to an environment. For example, a classroom may require variable table heights, or work surfaces that are easily visible for children using a chin support etc.
At the respiratory level • In certain situations there may be respiratory difficulties, and these can necessitate continuous or intermittent respiratory assistance.
At the cardiac level
• In rare cases, associated cardiac rhythm problems can necessitate the installation of a pacemaker.
Most of the time, children get used to living with these aids; however, some may experience difficulties. It is essential to evaluate potential difficulties accurately in order to adapt the pedagogy to the child.
As a general rule, children benefit from a pluridisciplinary follow-up, as this best encourages the regular adaptation of medical and paramedical management to the progression of each disease.
Key figures
It is difficult to evaluate with precision the number of persons affected with neuromuscular diseases, as epidemiological sources are more or less non-existent.
However, certain figures can give an idea :
• Boy affected with Duchenne de Boulogne myopathy: 1 in 3500 births – approximately 110 births per year
• Child affected with infantile spinal amyotrophy (type I, II or III): 1 in 6000-10000 births – approximately 100 births per year
• Steinert myotonic dystrophy affects 1 person in 10000
• Facioscapulohumeral dystrophy affects 1 person in 20000.
Treatments
Despite advances in therapeutic techniques, at the present time there are no curative treatments available for persons affected by a neuromuscular disease.
However, preventive treatments do exist for skeletal, respiratory and cardiac complications. Follow-up through regular physiotherapy sessions and specialised neuromuscular consultations is necessary. These consultations have been specially adapted for the management of children and adults affected by neuromuscular diseases.
Within this framework a psychological consultation can also be offered to the child or adolescent, with the dual prospect of:
- supplementing the evaluation of possible learning difficulties
- determining the psychological impact of the disease and proposing measures of accompaniment, if necessary.
| 
Print.
Send.