Topic: Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular syndrome caused by mutations within the DMD gene. DMD is associated with intellectual disability, behavioral disturbances and neuropsychiatric disorders. The presence and severity of these disorders, particularly social behavior disorders, seem to vary according to the position of the mutations affecting one or more brain dystrophins. However, the genotype-phenotype relationships underlying these troubles are not defined. In this study, we explored the involvement of brain dystrophins in social disorders using several DMD mouse models. We us

Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of neuromuscular diseases that cause progressive weakness and skeletal muscle breakdown. Although the current standard of care includes corticosteroids and physical therapy, integrative and traditional medicine has been increasingly sought. The single-arm pre-post study aimed to assess the feasibility and potential benefits of an integrated ayurveda and yoga treatment (IAYT) protocol in patients with muscular dystrophy. Twenty-two patients who were on conventional treatments were recruited. 2 were diagnosed with Bec

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease caused by mutations in the dystrophin gene, resulting in muscle degeneration and a shortened life expectancy. DMD patients have a higher prevalence of intellectual disability, anxiety, and autism spectrum disorder than the general population. The presence of at least seven alternative promoters, two polyA addition sites and multiple alternative splicing results in several dystrophin isoforms with different expression patterns and roles. Mutations affecting only the full-length isoforms (Dp427) are linked to emotional behaviour

Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder characterized by progressive muscle degeneration, severe inflammation, and premature death of young adults. In addition to physical disability, DMD presents largely non-progressive neuropsychiatric abnormalities, impacting patient compliance with treatment and overall quality of life for both patients and their families. The disease arises from mutations in the DMD gene, which encodes structurally and functionally distinct dystrophins. Notably, individuals with DMD lack full-length isoforms present in crucial brain regions

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease characterized by the absence of the cytoskeletal protein dystrophin (Dp427). Short isoforms, such as Dp116 in myelinating Schwann cells (SCs), exist in specific cell types. In SCs, Dp116 binds to the dystrophin-associated glycoprotein complex (DGC), which crucially contributes to myelin integrity and fiber conduction properties. Our prior research on the sciatic nerve (SN) of wild-type and mdx mice, a DMD animal model lacking Dp427, revealed a significant decrease in all myelin protein levels, indicating compromised myelin