Editorial commentary: Preserving myocardium in muscular dystrophy patients using ACE inhibition

Two of the key therapeutic questions for cardiology practitioners caring for muscular dystrophy patients is the efficacy and timing of initiating cardioprotective medications in this inexorably progressive disease. The article by Russo et al. [1] in this issue is an excellent review of this difficult and clinically important topic. The paper is a comprehensive review of angiotensin converting enzyme inhibitor (ACE-I) therapy in three different muscular dystrophies: Duchenne muscular dystrophy (DMD), myotonic dystrophy I, and Emery-Dreyfus muscular dystrophy.
Source: Trends in Cardiovascular Medicine - Category: Cardiology Authors: Source Type: research

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Aktan G Abstract Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy. PMID: 32253878 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
This article reviews the diagnosis and treatment of heart disease in Duchenne muscular dystrophy as well as emerging therapies.
Source: Current Heart Failure Reports - Category: Cardiology Source Type: research
Conditions:   Muscular Dystrophy, Duchenne;   DMD Intervention:   Drug: viltolarsen Sponsor:   NS Pharma, Inc. Available
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Duchenne Muscular Dystrophy Intervention:   Drug: Ataluren Sponsor:   PTC Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   Muscular Dystrophy, Duchenne;   DMD Intervention:   Drug: viltolarsen Sponsor:   NS Pharma, Inc. Available
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Duchenne Muscular Dystrophy Intervention:   Drug: Ataluren Sponsor:   PTC Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   Muscular Dystrophy, Duchenne;   DMD Intervention:   Drug: viltolarsen Sponsor:   NS Pharma, Inc. Available
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Duchenne Muscular Dystrophy Intervention:   Drug: Ataluren Sponsor:   PTC Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Lamin A is a component of the inner nuclear membrane that, together with epigenetic factors, organizes the genome in higher order structures required for transcriptional control. Mutations in the lamin A/C gene cause several diseases belonging to the class of laminopathies, including muscular dystrophies. Nevertheless, molecular mechanisms involved in the pathogenesis of lamin A–dependent dystrophies are still largely unknown. The polycomb group (PcG) of proteins are epigenetic repressors and lamin A interactors, primarily involved in the maintenance of cell identity. Using a murine model of Emery-Dreifuss muscular d...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) is caused by loss of repression of the DUX4 gene; however, the DUX4 protein is rare and difficult to detect in human muscle biopsies, and pathological mechanisms are obscure. FSHD is also a chronic disease that progresses slowly over decades. We used the sporadic, low-level, muscle-specific expression of DUX4 enabled by the iDUX4pA-HSA mouse to develop a chronic long-term muscle disease model. After 6 months of extremely low sporadic DUX4 expression, dystrophic muscle presented hallmarks of FSHD histopathology, including muscle degeneration, capillary loss, fibrosis, and atroph...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
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