neuromuscular diseases are abnormal processes involving cns (central nervous system), pns (peripheral nervous system), nmj (neuromuscular junction), muscle or any combination of these. our goals in neuromuscular disease are maintenance of function, quality of life, educate patient and family, anticipate needs, expect change and prevent or delay complications. limb contractures and scoliosis, we...

objective neuromuscular disorders (diseases of the motor unit), can cause respiratory problems such as impaired cough reflex, chest deformity, recurrent pneumonia and acute respiratory failure; these are the worst most common complications of these diseases and the leading cause of death in such patients (1, 2). their management hence, very often, entails admission to the pediatric intensive ca...

The development of e-health technologies for teleconsultation and exchange knowledge is within the mission European Reference Networks (ERN), including Euro-NMD, ERN rare neuromuscular diseases. Clinical Patient Management System (CPMS) a web-based platform promoting active collaboration across ERNs to discuss patient cases. “Telegenetics” represents an attractive alternative traditional on-sit...