1 results match your criteria: "European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) Center[Affiliation]"
Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital.
Eur J Paediatr Neurol
January 2024
Multidisciplinary Pediatric Neuromuscular Diseases Team, CMIN, CHUdSA, European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) Center, Porto, Portugal.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat.
Methods: A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms.
Results: Thirty-seven patients (59.