Neuromuscular diseases (NMDs) comprise a clinically and genetically heterogeneous
group of inherited disorders leading to progressive muscle weakness
and frequently premature death, because of the lack of effective therapies.
Frequently, other organs like the heart, the brain and the eyes are affected in various NMDs.
The clinical onset ranges from severe, congenital NMDs to juvenile and adult forms.
Still to date, many NMDs lack proper molecular diagnosis and classification.
Our vision is to develop and provide
innovative solutions for the diagnosis and treatment
to alleviate the burden of neuromuscular diseases.
Our mission is to:
· improve initial treatment of the disease with a direct benefit for the patient
through providing expert diagnostic services
· facilitate the development of innovative diagnostic and therapeutic procedures
specifically adapted to the needs of patients and their families,
health professionals and researchers.