Oct 2026· Journal of Neurology· Vol 273· 0 citations· 28 references
Medicine
TL;DR
It is found that sex is associated with distinct phenotypic profiles in DM1 and DM2, and male patients generally exhibit more cardiologic and endocrinological/metabolic burden in both DM1 and DM2.
This review highlights genetically targeted therapeutics showing impact for muscle manifestations of DM1, ongoing efforts now shifting to expand to other target tissues and the younger population, and the understanding of societal burden and population genetics of DM1.
Samuel Carrell, Adam D. Comer, Nicholas E. Johnson· Current Opinion in Neurology· 1 citation
Abstract Introduction: to report a familial case of Limb-girdle muscular dystrophy, type C, 4 (MDDGC4) associated with a homozygous mutation in FKTN gene, highlighting phenotypic variability, diagnostic delay, and atypical clinical features described in the pediatric literature. Description: two siblings were evaluated...
Milena Babugia Pinto, Fernanda Isabely Morgan Magalhães, V. T. Ebihara et al.· Revista Brasileira de Saúde...· 0 citations
Background Myotonic Dystrophy Type 1 (DM1) is a multisystem genetic disorder and the most common muscular dystrophy in adults. Central nervous system involvement is well-documented in DM1, including cognitive impairment. Cross-sectional studies have described a heterogeneous neuropsychological profile; however, the tra...
Ainara Clemente-Fernández, Irati Larrañaga, Joana Garmendia et al.· Frontiers in Neurology· 0 citations
Introduction and purpose: Muscular dystrophies are progressive, hereditary muscle disorders whose inheritance pattern and multisystem involvement complicate reproductive decisions, yet evidence on maternal and neonatal outcomes remains fragmented. This review summarises current literature on pregnancy in women with dys...
Maria Całusińska-Skowron, Klaudia Jeziorowska, A. Kudłacik et al.· International Journal of Inn...· 0 citations
The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.
Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al.· Neurology: Genetics· 0 citations
Background and objective Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked genetic disorder caused by pathogenic variants in the dystrophin gene, leading to progressive muscle weakness, loss of ambulation, and premature mortality. Clinical trials are essential for advancing evidence-based management...
J. H. Chaudhary, Jiya O. Chacko, Viswabhaskar Susarla et al.· Cureus· 0 citations
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