Search results for "muscular dystrophy"

Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy

2021

BackgroundNeuropsychological profile of Indian Duchenne muscular dystrophy (DMD) subjects remains unidentified and needs to be evaluated.MethodsA total of 69 DMD and 66 controls were subjected to detailed intelligence and neuropsychological assessment. The factor indexes were derived from various components of Malin’s Intelligence Scale for Indian Children (MISIC) and Rey Auditory Verbal Learning Test (RAVLT).ResultsPoor verbal and visual memory profiles were demonstrated by DMDs, which include RAVLT-immediate recall (IR) (p = 0.042), RAVLT-delayed recall (DR) (p = 0.009), Rey–Osterrieth complex figure test (RCFT)-IR (p = 0.001), and RCFT-DR (p = 0.001). RAVLT-memory efficiency index demons…

Psychological aspects in children affected by duchenne de boulogne muscular dystrophy.

2012

Impairment of intelligence in Duchenne muscular dystrophy (DMD) patients was described by Duchenne de Boulogne himself in 1868. Further studies report intelligence disorders with mayor impairment of memory. The aim of the present study was to assess the presence of affective and personality disorders in a group of children affected by DMD. Twenty six male DMD patients, mean age eleven and four months years old, were assessed for their affective and personality disorder. Only eight subjects had a total IQ below average with major difficulties in verbal and visual-spatial memory, comprehension, arithmetic and vocabulary. All the subjects presented some disorders: tendency to marginalization a…

D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice.

2014

Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) have been discovered in several cancer types and cause the neurometabolic syndrome D2-hydroxyglutaric aciduria (D2HGA). The mutant enzymes exhibit neomorphic activity resulting in production of D2-hydroxyglutaric acid (D-2HG). To study the pathophysiological consequences of the accumulation of D-2HG, we generated transgenic mice with conditionally activated IDH2R140Q and IDH2R172K alleles. Global induction of mutant IDH2 expression in adults resulted in dilated cardiomyopathy, white matter abnormalities throughout the central nervous system (CNS), and muscular dystrophy. Embryonic activation of mutant IDH2 resulted in more pronounced ph…

Desmin-related myopathy with mallory body-like inclusions is caused by mutations of the selenoprotein N gene

2004

Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of c…

Skoliose und Hüftbeugekontraktur bei Duchennescher Muskel-dystrophie

2000

UNLABELLED Spinal deformity is common in muscular dystrophy and usually occurs after loss of walking ability. Unlike in idiopathic and other scoliosis forms, there seems to be no side preference of the convexity. Aim of the study was to analyse, if there is any relation between incidence and extent of walking ability, lower limb contractures and development of scoliosis. METHODS In a retrospective study, 45 patients with Duchenne muscular dystrophy who underwent surgery were analysed, concerning walking ability, contractures of lower extremities and scoliosis. RESULTS 1: No scoliosis was observed in ambulatory patients. 2: 96% of the wheelchair bound patients suffered from scoliosis. 3: 96%…

[Respiratory muscle aids during an episode of aspiration in a patient with Duchenne muscular dystrophy].

2005

We report the case of a Duchenne muscular dystrophy patient with good bulbar function but severely decreased forced vital capacity (9%) and spontaneous peak cough flow (PCF) (2.35 L/s). The patient needed continuous noninvasive ventilation (NIV) consisting of a volumetric ventilator with a nighttime nasal mask and a daytime mouthpiece. He also required application of manually assisted coughing techniques by insufflation with a resuscitation bag and chest thrust (manually assisted PCF after maximum insufflation capacity of 4.33 L/s). An episode of serious food aspiration was resolved by his main caregiver through NIV and manually assisted coughing. Bronchoscopy under sedation using NIV with …

Properties of slow wave activity in duodenal smooth muscle from mice lacking full-length dystrophin

2010

Treatment with soluble activin type IIB-receptor improves bone mass and strength in a mouse model of Duchenne muscular dystrophy.

2016

Background Inhibition of activin/myostatin pathway has emerged as a novel approach to increase muscle mass and bone strength. Duchenne muscular dystrophy (DMD) is a neuromuscular disorder that leads to progressive muscle degeneration and also high incidence of fractures. The aim of our study was to test whether inhibition of activin receptor IIB ligands with or without exercise could improve bone strength in the mdx mouse model for DMD. Methods Thirty-two mdx mice were divided to running and non-running groups and to receive either PBS control or soluble activin type IIB-receptor (ActRIIB-Fc) once weekly for 7 weeks. Results Treatment of mdx mice with ActRIIB-Fc resulted in significantly in…

Altered tachykinergic influence on gastric mechanical activity in mdx mice

2006

Abstract This study investigated whether alterationsin gastric activity in dystrophic mdx mouse can beattributed to dysfunctions of tachykinins. Endolumi-nal pressure was recorded and the expression ofneuronal nitric oxide synthase (nNOS), NK1 and NK2neurokinin receptors was investigated by immunoh-istochemistry. SR48968, NK2 receptor antagonist, butnot SR140333, NK1 receptor antagonist, decreased thetone only in mdx gastric preparations. In the presenceof N x -nitro- L -arginine methyl ester ( L -NAME), inhib-itor of NOS, SR48968 reduced the tone also in normalstomach. [Sar 9 , Met(O 2 ) 11 ]-SP, agonist of NK1 recep-tors, caused tetrodotoxin-sensitive relaxations, antag-onized by SR140333…

Exploration of lipid metabolism in relation with plasma membrane properties of Duchenne muscular dystrophy cells: influence of L-carnitine.

2012

Duchenne muscular dystrophy (DMD) arises as a consequence of mutations in the dystrophin gene. Dystrophin is a membrane-spanning protein that connects the cytoskeleton and the basal lamina. The most distinctive features of DMD are a progressive muscular dystrophy, a myofiber degeneration with fibrosis and metabolic alterations such as fatty infiltration, however, little is known on lipid metabolism changes arising in Duchenne patient cells. Our goal was to identify metabolic changes occurring in Duchenne patient cells especially in terms of L-carnitine homeostasis, fatty acid metabolism both at the mitochondrial and peroxisomal level and the consequences on the membrane structure and functi…