Search results for "Duchenne"

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases

2020

For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain across a set of ten rare, noninfectious, noncancerous disorders; Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Achondroplasia, Fibrodysplasia Ossificans Progressiva, Fibrous Dysplasia/McCune-Albright Syndrome, Complex Regional Pain Syndrome, Duchenne Muscular Dystrophy, Infantile- and Late-Onset Pompe disease, Charcot-Marie-Tooth Disease, and Amyotrophic Lateral Sclerosis. Through the integration of natural history, cross-sectional, retrospective…

Ultrastructural changes in the interstitial cells of Cajal and gastric dysrhythmias in mice lacking full-length dystrophin (mdxmice)

2003

At least two populations of c-kit positive interstitial cells of Cajal (ICC) lie in the gastric wall, one located at the myenteric plexus level has a pace-making function and the other located intramuscularly is intermediary in the neurotransmission and regenerates the slow waves. Both of these ICC sub-types express full-length dystrophin. Mdx mice, an animal model lacking in full-length dystrophin and used to study Duchenne muscular dystrophy (DMD), show gastric dismotilities. The aim of the present study was to verify in mdx mice whether: (i) gastric ICC undergo morphological changes, through immunohistochemical and ultrastructural analyses; and (ii) there are alterations in the electrica…

G.P.15.09 Memory deficit of children with Duchenne muscular dystrophy

2007

Distrofia Muscular de Duchenne y Becker: implicaciones cognitivas y conductuales

2021

La distrofia muscular de Duchenne (DMD; OMIM: 310200), es causada por la ausencia de distrofina; y la distrofia muscular de Becker (DMB; OMIM: 300376), es causada por una disminución o expresión anómala de distrofina. Al menos el 30% de los pacientes cursan con alteración cognitiva y conductual durante el neurodesarrollo. En esta investigación se pretenden estudiar los fenotipos cognitivos y conductuales asociados, en una muestra de pacientes españoles. Siendo el primer estudio cognitivo a nivel nacional. MÉTODO: 41 pacientes DMD, 19 pacientes DMB y 39 pacientes control. Rango de edades entre 3 y 16 años. Se valora el nivel cognitivo general del paciente (CI) y las funciones cognitivas espe…

Effects of low intensity endurance training on small airways of MDX mice

2009

Considerations to the policy of future clinical therapeutic trials in DMD.

2002

In spite of rapidly increasing insight into the molecular basis of neuromuscular diseases, treatment still relies on convention and clinical studies. Experience with a multicentre double blind treatment study in Duchenne muscular dystrophy and with consecutive steroid treatment documentation for up to 8 years enables us to identify a series of crucial points on which to focus while planning such clinical trials. The most important seem to be: a carefully structured, detailed study, clear-cut aims and objectives, expertise of investigators, sufficient training of examiners, and careful monitoring. If patients with neuromuscular diseases are treated outside structured studies, their course sh…

Muscle adenylate kinase in Duchenne muscular dystrophy

1986

Abstract On the basis of electrophoretic and enzyme inhibition studies it was postulated that an aberrant adenylate kinase occurs in muscle and serum of patients with Duchenne muscular dystrophy (Schirmer, R.H. and Thuma, E. (1972) Biochim. Biophys. Acta 268, 92–97; Hamada, M. et al. (1981) Biochim. Biophys. Acta 660, 227–237; Hamada et al. (1985) J. Biol. Chem. 260, 11595–11602. On the basis of the following results we conclude that Duchenne muscular dystrophy patients do not possess an unusual adenylate kinase isoenzyme. (1) In muscle biopsies from five Duchenne patients, the electrophoretic mobility of adenylate kinase and the inhibition of the enzyme by P 1 , P 5 -di(adenosine-5′)pentap…

Deflazacort in Duchenne dystrophy: Study of long-term effect

1994

A randomized double-blind controlled trial of deflazacort was conducted in 28 Duchenne muscular dystrophy patients either treated with deflazacort 2.0 mg/kg alternate-day therapy or placebo. The deflazacort group showed significant improvement in climbing stairs (P < 0.01), in rising from a chair, Gower's maneuver, and walking (P < 0.0025) after 6 months of treatment. After 1 year, all the above changes remained significantly improved and the MRC index was significantly better (P < 0.05) in the treated group. After 2 years, a significant change was found in the MRC index: higher scores in walking, chair rising (P < 0.02), and grade and time of Gower's maneuver (P < 0.05) were found. The mea…

Myostatin/activin blocking combined with exercise reconditions skeletal muscle expression profile of mdx mice

2015

Duchenne Muscular Dystrophy is characterized by muscle wasting and decreased aerobic metabolism. Exercise and blocking of myostatin/activin signaling may independently or combined counteract muscle wasting and dystrophies. The effects of myostatin/activin blocking using soluble activin receptor-Fc (sActRIIB-Fc) administration and wheel running were tested alone or in combination for seven weeks in dystrophic mdx mice. Expression microarray analysis revealed decreased aerobic metabolism in the gastrocnemius muscle of mdx mice compared to healthy mice. This was not due to reduced home-cage physical activity, and was further downregulated upon sActRIIB-Fc treatment in enlarged muscles. However…

Mild Aerobic Exercise Training Hardly Affects the Diaphragm ofmdxMice

2017

In the mdx mice model of Duchenne Muscular Dystrophy (DMD), mild endurance exercise training positively affected limb skeletal muscles, whereas few and controversial data exist on the effects of training on the diaphragm. The diaphragm was examined in mdx (C57BL/10ScSn-Dmdmdx) and wild-type (WT, C57BL/10ScSc) mice under sedentary conditions (mdx-SD, WT-SD) and during mild exercise training (mdx-EX, WT-EX). At baseline, and after 30 and 45 days (training: 5 d/wk for 6 weeks), diaphragm muscle morphology and Cx39 protein were assessed. In addition, tissue levels of the chaperonins Hsp60 and Hsp70 and the p65 subunit of nuclear factor-kB (NF-kB) were measured in diaphragm, gastrocnemius, and q…