Search results for "Duchenne muscular dystrophy"

Autism spectrum disorders in children affected by Duchenne muscular dystrophy

2018

Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…

Beneficial Role of Exercise in the Modulation of

2021

Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive lethal disorder caused by the lack of dystrophin, which determines myofibers mechanical instability, oxidative stress, inflammation, and susceptibility to contraction-induced injuries. Unfortunately, at present, there is no efficient therapy for DMD. Beyond several promising gene- and stem cells-based strategies under investigation, physical activity may represent a valid noninvasive therapeutic approach to slow down the progression of the pathology. However, ethical issues, the limited number of studies in humans and the lack of consistency of the investigated training interventions generate loss of consensus regarding …

Autism spectrum disorders in children affected by Duchenne Muscular Dystrophy

2019

Objective Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have ben associated with disruption of dystrophin isoforms. Recent studies have pointed to an increased risk for intellectual disability and autism among affected males.The aim of the present study was to describe a case series of children with DMD that have also the presence of autism spectrum disorders (ASDs). they have been assessed by means of standardized autism scales and the monst appropriate psycho-educational treatment is herein discussed. Methods and Results In order to evaluate and iden…

Alterations of intestinal transit and fecal output in dystrophic mdx mice.

2009

Proteomic analysis of skeletal muscle in dystrophic (mdx) mice subject to low-intensity endurance exercise

2014

La rigenerazione del muscolo scheletrico in risposta ad un trauma dipende, dal tipo di lesione come contusione, deformazione e lacerazione e della gravità. Molti fattori regolatori svolgono un ruolo importante nella rigenerazione muscolare e uno di loro è l'esercizio fisico. Come l’esercizio fisico influisca sui muscoli dipende sia dalla modalità,dall’ intensità e durata dell’ allenamento e dslle caratteristiche specifiche del muscolo scheletrico in questione. Il primo obiettivo di questo studio è stato esaminare come l’esercizio di resistenza a bassa intensità influisca sul processo di rigenerazione in ratti con danno muscolare di tipo meccanico. I ratti sono stati divisi in tre gruppi: se…

Memory deficit of children with Duchenne muscular dystrophy

2007

Several studies on intelligence of children suffering from Duchenne muscular dystrophy (DMD) found impairments in linguistic functions and memory. Memory deficit mainly involves long-term memory; short-term memory impairment was also present, even if less frequently. Some studies tried to establish a correlation between the distal deletion of the dystrophin gene and low intelligence levels. The present study investigated the neuropsychological performance in a group of DMD children (26 subjects); neuropsychological tests included: Wechsler intelligence scale for children-revised; Raven’s progressive matrices test; Rey’s complex figure test; memory and digit span tests; Benton’s visual reten…

Early alterations of the behavioural structure of mice affected by Duchenne muscular dystrophy and tested in open-field

2020

Present study has been carried out to assess whether early alterations of the behavioural structure may be detected in mice affected by Duchenne muscular dystrophy (DMD). To this purpose, both quantitative and T-pattern analysis (TPA) were used to analyse the behaviour of two groups of male, two months old mice, 18 MDX and 18 normal as control, tested in an open-field apparatus. T-pattern analysis is a multivariate technique able to reveal hidden structural features of behaviour and, in particular, its temporal characteristics. As to quantitative analyses, mean durations evidenced a significant increase of Walking, Modified Climbing and Rearing and a significant reduction of Immobile-Sniffi…

MMP-10 Is Required for Efficient Muscle Regeneration in Mouse Models of Injury and Muscular Dystrophy

2013

Abstract Matrix metalloproteinases (MMPs), a family of endopeptidases that are involved in the degradation of extracellular matrix components, have been implicated in skeletal muscle regeneration. Among the MMPs, MMP-2 and MMP-9 are upregulated in Duchenne muscular dystrophy (DMD), a fatal X-linked muscle disorder. However, inhibition or overexpression of specific MMPs in a mouse model of DMD (mdx) has yielded mixed results regarding disease progression, depending on the MMP studied. Here, we have examined the role of MMP-10 in muscle regeneration during injury and muscular dystrophy. We found that skeletal muscle increases MMP-10 protein expression in response to damage (notexin) or diseas…

Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas

2019

<b><i>Background:</i></b> Noninvasive mechanical ventilation (NIV) is an effective treatment in patients with neuromuscular diseases (NMD) to improve symptoms, quality of life, and survival. <b><i>Summary:</i></b> NIV should be used early in the course of respiratory muscle involvement in NMD patients and its requirements may increase over time. Therefore, training on technical equipment at home and advice on problem solving are warranted. Remote monitoring of ventilator parameters using built-in ventilator software is recommended. Telemedicine may be helpful in reducing hospital admissions. Anticipatory planning and palliative care should be …

Myogenic NOS and endogenous NO production are defective in colon from dystrophic (mdx) mice

2001

The aim of the present study was to evaluate whether alterations in the distribution and/or function of nitric oxide synthase (NOS) could be involved in the development of the spontaneous mechanical tone observed in colon from dystrophic (mdx) mice. By recording the intraluminal pressure of isolated colon from normal mice, we showed that Nω-nitro-L-arginine methyl ester (L-NAME) increased the tone, even in the presence of tetrodotoxin. The effect was prevented by L-arginine, nifedipine, or Ca2+-free solution. In colon from mdx mice, L-NAME was ineffective. Immunohistochemistry revealed that the presence and distribution of neuronal (nNOS), endothelial, and inducible NOS isoforms in smooth m…