FAQs
Sometimes, getting the right diagnosis takes a long time because you might have common and seemingly unrelated symptoms, an unusual presentation of a known rare condition, or the clinician may not have the knowledge or experience.
If your health care provider has been unable to make a definite diagnosis, you may need to be referred to the appropriate medical specialist. Ask your primary care provider for a referral or contact us.
Medical genetic testing is often an important part of the diagnostic work-up (approximately 80% of rare diseases are genetic). Knowing the underlying genetic cause may make you eligible for certain research opportunities or clinical trials.
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.
The present study involves the collection of clinical data, from muscle MRI (on clinical indication), muscle biopsy (on clinical indication) and DNA analysis. For each participating subject, the samples, collected with standardized methodologies, will be analyzed with the most sophisticated and advanced artificial intelligence computational techniques which will integrate them to try to obtain a pattern of information that will allow the patient to be classified as precisely as possible into correlation both to the clinical evaluation and to genomic data (i.e. from DNA analysis), muscle magnetic resonance imaging (MRI), and related to muscle biopsy. The aim is to create a new generation of “precision diagnosis” tools that allow researchers and/or healthcare professionals to group patients with inherited neuromuscular diseases based on multiple data points. This would give the possibility, by identifying the peculiar characteristics of the various groups of patients, to precisely follow the individual patient over time, thus also collecting information that will be used to understand how the different clinical conditions linked to the different groups can evolve over time. Furthermore, this type of study can give new perspectives to the knowledge of the pathogenetic and transmission mechanisms of hereditary neuromuscular diseases, increasing the possibility that effective therapies can be found for patients grouped according to this classification. To this end, the data collected from you will be analyzed through the application of computational methods based on artificial intelligence which allow the creation of solutions focused on the integration of health data to support patients, healthcare workers and citizens.