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 [...]
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 [...]
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.
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.
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.