Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

ConclusionPYROXD1 variants can cause an adult-onset slowly progressive LGMD-type phenotype.
Source: Journal of Neurology - Category: Neurology Source Type: research

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ConclusionUse of manual exsufflation in combination with the manual ventilation bag for air stacking to improve cough performance is recommended as the first step of respiratory management in DMD patients. Provision of manual ventilation bag serve as an affordable and effective device for respiratory support in the early stage of respiratory involvement in those non-ambulatory patients with DMD.
Source: BMC Proceedings - Category: Biomedical Science Source Type: research
We tested the effects of glucocorticoids (GCs) and genetic factors on respiratory and cardiac function in a large DMD cohort followed by the Italian DMD network, with validation in the CINRG Duchenne natural history study (DNHS). The Italian cohort comprised 327 patients with spirometric data and 374 with echocardiographic data (mean follow-up 4.5 and 2.6 years respectively). We used generalized estimating equations to evaluate effects of DMD mutation types (involving or sparing the isoform Dp140; amenable to skipping of exons 8, 44, 45, 51, and 53; nonsense) and SNP modifiers: rs28357094 (SPP1 promoter, dominant), rs10880...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Publication date: Available online 17 January 2019Source: Respiratory Physiology &NeurobiologyAuthor(s): Lívia Cocato Luiz, Fernando Augusto Lima Marson, Celize Cruz Bresciani Almeida, Adyléia Aparecida Dalbo Contrera Toro, Anamarli Nucci, José Dirceu RibeiroAbstractIntroductionDuchenne muscular dystrophy(DMD) shows motor and respiratory impairment.Methods19 DMD patients(DMDG) (nine ambulatory and 10 non-ambulatory) were evaluated through motor function measure(MFM), 6-minute walk test(6MWT), respiratory muscle strength, cough peak flow, spirometry and volumetric capnography(VCap) tools. Control gr...
Source: Respiratory Physiology and Neurobiology - Category: Respiratory Medicine Source Type: research
(IOS Press) Heart and lung complications are responsible for much of the morbidity and mortality associated with Duchenne muscular dystrophy (DMD). Although regular monitoring of pulmonary function is recommended in order to detect deterioration, compliance with routine testing, such as hospital-based spirometry, is frequently poor.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Conclusion: Home based measuring of PEF%p and FEV1%p is a reliable method of monitoring respiratory function in pediatric and adolescent patients with DMD, in addition to hospital-based monitoring. These data further support the efficacy of idebenone in slowing respiratory function decline in DMD.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical Problems Source Type: research
In Duchenne muscular dystrophy (DMD), respiratory function decline leads to a high disease burden and early mortality. Data comparing the similarity and reliability of home-based respiratory assessments to hospital-based spirometry assessments had been lacking. In DELOS, respiratory function data were prospectively collected from 64 DMD patients aged 10-18 years, not taking glucocorticoids. All patients had established respiratory function decline (defined as peak expiratory flow
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Duchenne muscular dystrophy (DMD) is caused by defects in the gene for dystrophin, a protein that stabilizes muscle cell membranes, leading to progressive loss of muscle fibers with replacement by fat and connective tissue [1]. Progressive loss of strength in accessory and active breathing muscles leads to reduced respiratory volumes and airway forces consistent with restrictive pulmonary disease. Respiratory decline in DMD, as measured by spirometry, usually begins late in the first decade. Progression leads to impaired respiratory secretion clearance, nocturnal and daytime hypoventilation, life-threatening pulmonary infe...
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Research Article Source Type: research
ConclusionOn preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.ResumoJustificativa/objetivosDistrofia muscular de Duchenne/Becker afeta a musculatura esquelética e leva a fraqueza muscular progressiva e risco de reações atípicas anes...
Source: Brazilian Journal of Anesthesiology - Category: Anesthesiology Source Type: research
Conclusions:COL6A has unique skin changes, central cloud appearance on muscle ultrasound. LAMA2 has demyelinating polyneuropathy and white matter changes on brain imaging. The presence of neurogenic changes on EMG and muscle histology in COL6A suggests motor axonal neuropathy. Genetic testing remains the gold standard in confirming COL6A congenital muscular dystrophy. Objectives: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. Methods: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data i...
Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Original Article Source Type: research
In Duchenne muscular dystrophy (DMD), it is still to be determined if specific timepoints can be identified during the natural evolution of respiratory dysfunction from childhood to adulthood and if scoliosis, steroid therapy and nocturnal noninvasive mechanical ventilation (NIMV) have any effect on it. In a 7-year retrospective study performed on 115 DMD patients (6–24 years), evaluated once or twice per year, with 574 visits in total, evolution mean curves of spirometry, lung volumes, spontaneous breathing and thoraco-abdominal pattern (measured by optoelectronic plethysmography) parameters were obtained by no...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Lung structure and function Original Articles: Lung function Source Type: research
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