China
Africa
Explore chapters and articles related to this topic
Environmental factors contribute to skeletal muscle and spinal cord regeneration
Published in David M. Gardiner, Regenerative Engineering and Developmental Biology, 2017
Ophelia Ehrlich, Yona Goldshmit, Peter Currie
Laminin-111 has been studied as a potential therapeutic tool within skeletal muscle dystrophic and regeneration animal models. Although not the predominate laminin isoform seen in the skeletal muscle, laminin-111 has been shown to interact with the cell receptors, DGC, and integrin-α7β1 with similar affinities. Historically, laminin expression has been used for the treatment of laminin-α2 deficiency. Complete laminin-α2 deficiency in humans causes congenital muscular dystrophy (CMD). Congenital muscular dystrophies are a group of neuromuscular disorders that derive from autosomal recessive mutations in a range of genes (Emery 2002; Jimenez-Mallebrera et al. 2005; Collins and Bönnemann 2010). The main clinical features of CMDs are present at birth or within the first few months after birth. Symptoms include hypotonia, muscle weakness, and, often, joint contractures and elevated serum creatine kinase levels (Jimenez-Mallebrera et al. 2005). Merosin-deficient CMD type 1A (MDC1A) is a laminin-α2-deficient disease that constitutes ~30% of all European cases of CMD (Allamand and Guicheney 2002). Patients with MDC1A lack independent ambulation, experience respiratory insufficiency, and histologically have increased apoptotic signaling (Hayashi et al. 2001; Allamand and Guicheney 2002). Patient biopsies also indicate variable degrees of muscle regeneration (Jimenez-Mallebrera et al. 2005). Clinically, MDC1A is also identified by white matter changes in the cerebrum of the brain under magnetic resonance imaging (MRI) (de los Angeles Beytía et al. 2014). There is also evidence of patients with milder forms of MDC1A, and this is likely due to having a functional truncated laminin-α2 subunit instead of a complete loss of function (Muntoni and Voit 2004; Geranmayeh et al. 2010). Overall, the lack of a laminin-α2 subunit, a subunit that is associated with membrane stability and signal transduction, induces the deregulation of a variety of signaling pathways, resulting in apoptosis, fibrosis, chronic inflammation, and failed regeneration (Kuang et al. 1999; Bentzinger et al. 2005; Gawlik and Durbeej 2010; Rooney et al. 2012b; Yamauchi et al. 2013; Mehuron et al. 2014).
Communication skills among children with spinal muscular atrophy type 1: A parent survey
Published in Assistive Technology, 2021
Laura J. Ball, Stephen Chavez, Geovanny Perez, Diana Bharucha-Goebel, Kathleen Smart, Katherine Kundrat, Lauren Carruthers, Caitlin Brady, Meganne Leach, Sally Evans
Motor features include severe hypotonia, minimal head control, muscle weakness, and atrophy (Kolb & Kissel, 2015). As discussed, oral motor difficulties are progressively evident, ultimately resulting in anarthria (Wang et al., 2007), whereas eye control and vision typically remain unaffected with typical function (Kubota et al., 2000; Polido et al., 2017).