Neurogenetic and Muscular Disorders Research

Özet henüz yok.

[This corrects the article DOI: 10.3389/fpubh.2025.1714795.].

AIM: Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott-Rallison syndrome (WRS), a recessive disorder characterized by early-onset diabetes and progressive multisystem disease cause…

Orthopaedic complications encountered during infancy include a broad spectrum of positional deformities, congenitalanomalies, developmental disorders and neuromuscular conditions affecting the musculoskeletal system. Positional deformitiessuch as intoeing, metatarsus adductus, talipes equinovarus, calcaneovalgus, genu…

Orthopaedic complications encountered during infancy include a broad spectrum of positional deformities, congenitalanomalies, developmental disorders and neuromuscular conditions affecting the musculoskeletal system. Positional deformitiessuch as intoeing, metatarsus adductus, talipes equinovarus, calcaneovalgus, genu…

Abstract Background Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic SMN1 deletion or mutation, leading to degeneration of anterior horn motor neurons. Newborn screening enables presymptomatic diagnosis, and timely initiation of disease-modifying therapy is associated with impr…

INTRODUCTION/AIMS: Data comparing nusinersen monotherapy with combination therapy using nusinersen and onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) type 1 patients are limited. This study aimed to compare the clinical outcomes of nusinersen monotherapy versus combination therapy (nusinersen and OA) i…

Özet henüz yok.

Özet henüz yok.

ABS TRACT This case report presents a 36-year-old female presenting with burning lower extremity pain, proximal muscle weakness, and imbalance.Her clinical examination revealed diffuse proximal weakness, with mild distal involvement, and left ptosis.Routine laboratory and imaging results were unremarkable, and electro…

Özet henüz yok.

Hemophilia, a congenital deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B), leads to recurrent bleeding episodes that may cause progressive joint damage and long-term disability. Traditional management relies on intravenous factor replacement therapy; however, limited half-life, immunogenicity, veno…