I work as a full-time clinical psychologist at the hospital, in three departments: a department of medical genetics, a department of adult myology, and a neuromuscular unit in pediatric neurology. In these different departments, I have to meet occasionally or in follow-up with children, adolescents or adults affected by neuromuscular diseases (myopathies). These three activities are complementary because the patients can be followed within each service during their life. For example, a child diagnosed with myopathy will be followed up in pediatric neurology, then he will go to an adult consultation (at the Institute of Myology), and will be able to benefit from “genetic counseling” to talk about the risk of transmission to a future child. . These pathologies are very varied in their expression, their age of onset (from birth or at a late age) and their severity (more or less disabling, with or without life-threatening risk). However, they all have at least four points in common: they remain incurable to this day (despite recent and unprecedented developments in research); they imply a handicap for the subject (motor, which may be associated with a cognitive handicap); this handicap is progressive; the cause is genetic.
The genetic origin of neuromuscular and neurodegenerative diseases implies that there is a risk of being affected for several members of the family. As the modes of genetic transmission are varied, the couples we meet can be affected by these pathologies in different ways …
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