The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience

Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Original Article Source Type: research

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Dysferlin is encoded by the DYSF gene on chromosome 2p13 as a protein of approximately 237 kDa. Dysferlin is widely expressed, but it predominates at the sarcolemma of striated muscle [1] where it is involved in membrane repair [2,3], regeneration [4] and differentiation [5]. Mutations in DYSF cause the autosomal recessive muscular disorders limb girdle muscular dystrophy R2 (LGMDR2 dysferlin-related, formerly LGMD2B, OMIM 253601), Miyoshi Myopathy (OMIM 254130), distal myopathy with anterior tibial onset (OMIM 606768) and congenital muscular dystrophy [1,6 –8].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
PMID: 31513275 [PubMed - as supplied by publisher]
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
Publication date: Available online 9 September 2019Source: Stem Cell ResearchAuthor(s): Jelinkova Sarka, Markova Lenka, Pesl Martin, Valáškova Iveta, Makaturová Eva, Jurikova Lenka, Vondracek Petr, Lacampagne Alain, Dvorak Petr, C. Meli Albano, Rotrekl VladimirAbstractDuchenne muscular dystrophy (DMD) affects 1:3500–5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade of age. We reprogrammed fibroblasts from two independent DMD patients with a complete l...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly ta...
Source: BMC Neurology - Category: Neurology Authors: Tags: Study protocol Source Type: research
The nation’s capital will host the world’s premier conferences on facioscapulohumeral muscular dystrophy for all stakeholders(PRWeb September 10, 2019)Read the full story at https://www.prweb.com/releases/fshd_society_announces_2020_international_research_congress_and_connect_conferences/prweb16555337.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
AbstractThe need for a reliable and accurate method to quantify dystrophin proteins in human skeletal muscle biopsies has become crucial in order to assess the efficacy of dystrophin replacement therapies in Duchenne muscular dystrophy as well as to gain insight into the relationship between dystrophin levels and disease severity in Becker's muscular dystrophy. Current methods to measure dystrophin such as western blot and immunofluorescence, while straightforward and simple, lack precision and sometimes specificity. Here we standardized a targeted mass spectrometry method to determine the absolute amount of dystrophin in ...
Source: Journal of Mass Spectrometry - Category: Chemistry Authors: Tags: SPECIAL ISSUE ‐ RESEARCH ARTICLE Source Type: research
In conclusion, anti-CD45RC MAb treatment has potential in the treatment of DMD and might eventually result in reduction or elimination of CS use.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ABSTRACT In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease. A short description is given of the various theories based on disease pathogenesis, which give the substrates for the many therapeutic interventions. A brief review of the methods of evaluation used in therapeutic trials is made. Of all the treatments, the only drugs that are still considered able to modify the course of the disease are the corticosteroids (prednisone/prednisolone/deflazacort). Other drugs (coenzyme Q10 and creatine) have had a little effect in a f...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
CONCLUSIONS: RMT may improve lung capacity and respiratory muscle strength in some NMDs. In ALS there may not be any clinically meaningful effect of RMT on physical functioning or quality of life and it is uncertain whether it causes adverse effects. Due to clinical heterogeneity between the trials and the small number of participants included in the analysis, together with the risk of bias, these results must be interpreted very cautiously. PMID: 31487757 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
s A Abstract Mitogen-activated protein kinase (MAPK) phosphatase-5 (MKP-5), is a member of the dual-specificity family of protein tyrosine phosphatases, which negatively regulates p38 MAPK and the c-Jun NH2 kinase (JNK). MKP-5-deficient mice exhibit improved muscle repair and reduced fibrosis in an animal model of muscular dystrophy. Here, we asked whether the effects of MKP-5 on muscle fibrosis extends to other tissues. Using a bleomycin-induced model of pulmonary fibrosis, we found that MKP-5-deficient mice were protected from the development of lung fibrosis and expressed reduced levels of hydroxyproline and fi...
Source: American Journal of Physiology. Lung Cellular and Molecular Physiology - Category: Cytology Authors: Tags: Am J Physiol Lung Cell Mol Physiol Source Type: research
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