TY  - JOUR
AU  - Angelini, Corrado
PY  - 2024
DA  - 2024/04/18
TI  - Newborn Screening for Neuromuscular Disorders, Disorders of Glycogen Metabolism, and Fatty Acid Oxidation
JO  - OBM Genetics
SP  - 228
VL  - 08
IS  - 02
AB  - Newborn screening for neuromuscular disorders and glycogen or fatty acid oxidation disorders aims to identify infants at risk for these conditions, allowing for early intervention and management. While not all neuromuscular disorders currently have established newborn screening programs, there are various disorders for which screening is available or under investigation. Neuromuscular disorders encompass a wide range of conditions that affect the nerve, muscle, or the connection between them. Examples include spinal muscular atrophy (SMA), myotonic dystrophy, and Pompe disease (GSD II). Each disorder has different genetic causes, clinical presentations, and screening approaches. One example of successful newborn screening is for SMA, a genetic disorder caused by the loss of function of the Survival Motor Neuron 1 (SMN1) gene. This screening involves testing newborns' bloodspots for the absence or low levels of SMN1 gene product (protein), and if detected, further confirmatory genetic testing is performed. Early diagnosis of SMA is also crucial for treatments that are now available. In this article, we deal with various types of muscular dystrophy (DMD, BMD, FSHD), mitochondrial diseases, FAO disorders, and carnitine cycle defects.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2402228
DO  - 10.21926/obm.genet.2402228
ID  - Angelini2024
ER  -