Child and adolescent neuromuscular disorders

The activity of this research unit is closely interwoven with clinical work (i.e., the diagnosis, treatment and care of young patients affected by neuromuscular diseases, genetically determined or acquired). The Unit collaborates in research projects promoted by Italian and international networks (connected with the Italian Association of Myology and World Muscle Society, for example, or other networks) and/or supported by Telethon.

Our research in recent years, also ongoing, has concerned a range of areas: validation of outcome measures; study of the the natural history of different diseases (particularly Duchenne and Becker muscular dystrophy, FSH type muscular dystrophy, spinal muscular atrophy, and different forms of congenital myopathy and congenital muscular dystrophy); and, in close collaboration with the Institute’s  neuroradiology service, evaluation of genotype-phenotype correlations and innovations in neuromuscular imaging.

The Unit has a long tradition in the field of early-onset neuromuscular diseases. We recognize the importance of careful management of the emotional-relational and social issues faced by children and their families, and collaborate actively with patient associations, also carrying out information activities for them.

Children and adolescents from our own region of Lombardy, as well as other Italian regions, are referred to us by child neuropsychiatrists and general practitioners working in the community, or by colleagues from other hospitals. In our outpatient clinics, we carry out thorough anamnestic and clinical evaluations. These are the start of the diagnostic process, which requires the collaboration of different services within the Institute (radiology, electromyography, genetics). Subsequently, each patient begins a clinical-instrumental follow-up program in accordance with international guidelines.

Patients are offered the opportunity to use the most innovative therapies and, when their specific clinical and molecular characteristics allow it, to participate in clinical trials.

In addition, this research unit, which is part of the Foundation’s Child Neuropsychiatry Unit, is involved in postgraduate specialist training, including the organization of training events, also at national level.