Today is World Day for Neuromuscular Diseases and we talked to Clinical Genetics Manager, Leyre Larzabal, to learn a little more about them.
"First of all, it is important to bear in mind that when we talk about neuromuscular diseases we are referring to a group of more than 150 neurological, progressive and chronic conditions, mostly of genetic origin, which affect the musculature and the nervous system". He also explains that "their onset can occur at any stage of life, but more than 50% appear in childhood, this being their main characteristic", and he points out some of the distinctive symptoms "the loss of muscle strength and the degeneration of the set of muscles and nerves that control it".
In figures, neuromuscular diseases are the most prevalent group of rare or infrequent diseases. The situation in our country is similar to that of other European countries, "in Spain we have an estimated incidence of more than 50,000 patients affected by these pathologies".
Leyre also highlights the challenge involved in making a correct clinical diagnosis, since "in many cases the clinical presentation is very heterogeneous and overlapping between the different entities". Despite this, there is good news for patients, since "bearing in mind that most of them have a genetic origin, carrying out a genetic study helps to confirm the clinical suspicion and is decisive in making a correct diagnosis of the disease and thus being able to establish the most appropriate therapies for each case".
In addition, our head of Clinical Genetics highlights another positive factor, "having a genetic diagnosis also allows correct family planning, establishing the risk in the rest of the family and in the offspring".
Today is also the European Dystonia Day. According to the Spanish Society of Neurology in Spain suffer from it more than 20,000 people, of which it is believed that, approximately, half are of genetic origin (primary dystonia), and the other half are secondary dystonia, that is to say, that appear associated with other causes.
Leyre points out that "it is these patients with rare diseases who face another major problem, such as misdiagnosis, which occurs in more than 40% of cases in this type of disorders", and gives us the keys to try to reduce these figures, "improving the knowledge of this disease at the primary care level, where it is presented in many cases in its earliest stage, so it is essential to know how to recognize, evaluate and properly treat these early symptoms".
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