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Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis.
Pediatr Neurol
December 2024
Health and Social Research Center, Universidad de Castilla-La Mancha, Cuenca, Spain; Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Talca, Chile.
Background: Myotonic dystrophy type 1 (DM1) is caused by mutations in the DMPK gene, and it is associated with cognitive deficits and intelligence below normative values. The objective of this systematic review and meta-analysis was to estimate the overall intelligence and proportion of intellectual development disorder (IDD) in the population with DM1 and its association with its onset.
Methods: Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to January 2023.
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.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
September 2023
Department of Molecular Genetics Pharmacogenomics and Hormonology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France.
Article Synopsis
- Mutations in the EGR2 gene are linked to several hereditary neuropathies, including types of Charcot-Marie-Tooth disease and congenital neuropathy.
- A study identified 14 patients with EGR2 mutations, revealing a mean age of 44 years and a disease duration of 28 years, with common symptoms like pes cavus and distal limb weakness in all cases.
- The results show that EGR2-related neuropathies are rare progressive conditions that can present in childhood or adulthood, often misdiagnosed as inflammatory neuropathies, and include a range of previously unreported mutations.
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