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4452 search results for:

Progressive Muscular Dystrophy 

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  1. Open Access 01-12-2020 | Myopathy | OriginalPaper

    Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

    Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a distinctive gait with stiffness of the …

  2. Open Access 01-12-2021 | Myotonic Dystrophy | OriginalPaper

    Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study

    Muscular dystrophy (MD) is a group of genetic and progressive diseases with primary symptoms of skeletal muscle pain and weakness. In some MD, such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), cardiac involvement is …

  3. Open Access 01-12-2019 | Muscular Dystrophy | OriginalPaper

    Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims

    Muscular dystrophies (MDs) are inherited conditions typically characterized by progressive muscle degeneration and weakness leading to increased disability [ 1 ]. There are a number of specific types of MD disorders, including Duchenne and Becker …

  4. 01-02-2019 | OriginalPaper

    Progressive left ventricular dysfunction and myocardial fibrosis in Duchenne and Becker muscular dystrophy: a longitudinal cardiovascular magnetic resonance study

    This study examined the progression of left ventricular dysfunction and myocardial fibrosis in patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) to evaluate the effects of angiotensin-converting enzyme inhibitor …

  5. 01-11-2012 | OriginalPaper

    Permanent muscular sodium overload and persistent muscle edema in Duchenne muscular dystrophy: a possible contributor of progressive muscle degeneration

    To assess the presence and persistence of muscular edema and increased myoplasmic sodium (Na+) concentration in Duchenne muscular dystrophy (DMD). We examined eight DMD patients (mean age 9.5 ± 5.4 years) and eight volunteers (mean age 9.5 ± 3.2 …

  6. 01-05-2013 | OriginalPaper

    Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment

    Dysphagia is reported in advanced stages of Duchenne muscular dystrophy (DMD). The population of DMD is changing due to an increasing survival. We aimed to describe the dysphagia in consecutive stages and to assess the underlying mechanisms of …

  7. 01-10-2004 | OriginalPaper

    Hereditary muscular dystrophy in MDX mice as a homologous model for introduction of cell technologies in the treatment of progressive muscular dystrophies in humans

    Life-time monitoring of the main clinical and laboratory manifestations of hereditary muscular dystrophy in mdx mice confirmed the presence of mutation in exon 23 of dystrophin gene and the absence of this protein in skeletal muscles of mutant …

  8. 01-03-2002 | OriginalPaper

    Plasma Levels of Natriuretic Peptide and Echocardiographic Parameters in Patients with Duchenne's Progressive Muscular Dystrophy

    We investigated the relationship between plasma atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) levels and systolic and diastolic cardiac function, determined by echocardiography, in 63 patients with Duchenne's progressive

  9. Open Access 01-01-2009 | Abstract

    Increased susceptibility of the left lateral free wall to myocardial delayed enhancement in Duchenne Muscular Dystrophy: progressive systolic dysfunction demonstrable by CMR regional strain analysis

    Cardiac magnetic resonance imaging (CMR) has demonstrated reductions in peak LV myocardial circumferential strain (ε cc ) despite normal ejection fraction (EF) in Duchenne Muscular Dystrophy (DMD) patients. We hypothesized that the increased …

  10. 01-06-2007 | OriginalPaper

    Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy

  11. Open Access 01-12-2024 | Duchenne Muscular Dystrophy | OriginalPaper

    Identification of hub genes and therapeutic siRNAs to develop novel adjunctive therapy for Duchenne muscular dystrophy

    Duchenne muscular dystrophy (DMD) is the most frequent hereditary childhood myopathy. It affects predominantly males with an incidence estimated to be about 1 in 3500–5000 live male births [ 1 ]. DMD is characterized by progressive muscle …

  12. Open Access 01-12-2024 | Muscular Dystrophy | OriginalPaper

    Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing

    Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder characterized by progressive and asymmetric weakening of facial, scapular girdle, and upper limb skeletal muscles [ 1 , 2 ]. It is one of the most …

  13. Open Access 01-12-2024 | Myotonia | OriginalPaper

    Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

    Myotonic dystrophy (DM) is the most prevalent type of muscular dystrophy in adults worldwide (0.37–36.29 cases per 100,000) [ 1 ]. It is more than just a progressive degenerative disease confined in skeletal muscles. Multiorgan involvement is …

  14. Open Access 02-05-2024 | Duchenne Muscular Dystrophy | Online First

    Observing the Clinical Course of Duchenne Muscular Dystrophy in Medicaid Real-World Healthcare Data

    Duchenne muscular dystrophy (DMD) is a severe X-linked progressive neuromuscular disease. Robust data on the natural history of DMD are available from several well-documented clinical registries, including the Cooperative International …

  15. Open Access 01-12-2024 | Muscular Dystrophy | OriginalPaper

    Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study

    Limb Girdle Muscular Dystrophy (LGMD) is defined as a group of disorders with a common phenotype of progressive weakness of the shoulder and hip girdle muscles due to loss of muscle fibers. Disease progression tends to be symmetrical, but overall …

  16. 27-12-2023 | Becker Muscular Dystrophy | Online First

    Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes

    Along with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) is a rare genetic and progressive neuromuscular disease associated with an X-linked allelic disorder owing to mutations in the DMD gene, which has 79 exons (the largest …

  17. Open Access 19-10-2023 | Muscular Dystrophy | OriginalPaper

    MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders

    Neuromuscular disorders (NMD) are a class of progressive disorders that are characterized by wasting of the muscles. Some of the disorders like Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), congenital muscular dystrophies …

  18. 04-03-2024 | Duchenne Muscular Dystrophy | Online First

    A case of Duchenne muscular dystrophy recovered from prolonged ischemic kidney injury which emerged with a normal creatinine level

    Duchenne muscular dystrophy (DMD) is an inherited disease characterized by progressive degeneration of the skeletal muscles. Renal dysfunction in patients with DMD has recently become more apparent as life expectancy has increased owing to …

  19. Open Access 01-12-2024 | Muscular Dystrophy | OriginalPaper

    Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

    FSHD is the second most common progressive hereditary muscular dystrophy in adults with an estimated prevalence of 1 in 20,000 individuals [ 1 ]. The disease has a wide phenotypic spectrum, including heterogeneous patterns of symptoms and …

  20. 21-02-2023 | Spinal Muscular Atrophy | OriginalPaper

    Assessing validity of the EQ-5D-5L proxy in children and adolescents with Duchenne muscular dystrophy or spinal muscular atrophy

    Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two of the most prevalent monogenic neuromuscular disorders caused by loss-of-function mutations. Such patients exhibit progressive muscular weakness. They are often diagnosed …

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