Význam primárnej pediatrie v diagnostike a starostlivosti o pacientov s neuromuskulárnymi ochoreniami // SOLEN

Pediatria pre prax 1/2025

The role of general practitioners in the diagnosis and care of patients with neuromuscular disorders

Neuromuscular disorders (NMD) are broad spectrum of disorders affecting alpha-motoneurons of the anterior horn of the spine, peripheral nerves, neuromuscular junctions and muscles. In paediatric neuromuscular disorders, the leading cause of these disorders is hereditary aetiology. However, the last decade has brought many achievements in developing new drugs for the rare diseases mentioned above. The novel and innovative therapeutic options have created the need for multidisciplinary teams to coordinate complex and often tricky care for neuromuscular patients. Despite forming multidisciplinary centers, general practitioners are essential in caring for paediatric neuromuscular patients.

Keywords: neuromuscular disorders, primary care