Невролог: Клинический и терапевтический журнал

Абстрактный

Outline of New Born Baby checking of Neurological Illnesses

Bodensteiner JB

More than 400 different disorders fall under the umbrella of neuromuscular diseases, which are diverse in their phenotypic range. Due to their rarity and complexity, neuromuscular illnesses are frequently only discovered after a very long period of time, at which point irreparable muscle loss may reduce the effectiveness of treatments, when any are available. Neonatal screening may offer an answer for early detection and therapy in this situation. PRISMA standards were followed to perform a systematic evaluation of the literature in PubMed up to May 1, 2021, which included conditions with a clear involvement of the peripheral nervous system and classic neuromuscular illnesses (including central nervous system disease with severe neuropathy). We identified seven disorders for which newborn screening data were available: Krabbe disease, X-linked adrenoleukodystrophy, Pompe disease, Duchenne muscular dystrophy, spinal muscular atrophy, Myotonic dystrophy type, Krabbe disease, X-linked adrenoleuko- dystrophy, Pompe disease and metachromatic leukodystrophy. Changing from a biochemical to a genetic-based approach will require a global technical shift in newborn screening for neuromuscular diseases. In order for innovative medicines to be as effective as possible, the rapid development of therapy also necessitates the ability to quickly adjust the list of ailments treated.