T. Sabadin
Klinični oddelek otroške, mladostniške in razvojne nevrologije, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

M. Rogelj
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

A. Piskar
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Neuromuscular diseases are chronic, genetic diseases that demand a specific approach from healthcare personnel. Continuation of scientific research activities to detect and develop new treatments for children with neuromuscular diseases is of great importance. At the Paediatric Clinic in Ljubljana, we treat children with neuromuscular diseases and maintain the register of children with such diseases. The case of a child with infantile spinal muscular atrophy type 1 (Werdnig-Hoffmann), confirmed by genetic tests, is presented in this article. He was among the first we started to treat with a new drug, Spinraza® (nusinersen).

Key words: neuromuscular disorders, children, assessment, functional abilities, register.