Hereditary neuromuscular diseases are genetic and inherited diseases that cause progressive weakness and reduction of muscles, affecting the degree of mobility. Although it is difficult to predict how the disease will progress in the affected person, a progressive reduction in the ability to carry out certain movements is often observed and, in the long term, there are cases in which a general disability with loss of independence can be observed. In the case of hereditary neuromuscular diseases, the diagnostic process involves very expensive investigations to be able to identify the type of disease with certainty, but often the diagnosis is only partial or inconclusive and the prognosis is also difficult, due to the rarity that characterizes these conditions together with the lack of knowledge of the underlying causes. At the moment we know that the time needed to reach a diagnosis can take years and in 60% of cases it is not possible to formulate a precise diagnosis. dealing with genetically based diseases, these aspects lead to the impossibility of providing precise information to patients on what the risk is that family members can treat the same disease and with what degree of severity.
