Spironolactone Promising in Duchenne Muscular Dystrophy Spironolactone Promising in Duchenne Muscular Dystrophy
Preliminary results from a study of spironolactone in Duchenne muscular dystrophy suggest that the drug is safe in this patient group and may preserve left ventricular function.Medscape Medical News
This case report describes a severe adverse event following antisense oligonucleotide treatment for muscular dystrophy that occurred in 6 pediatric patients.
Background: Cardiomyopathy is common in the setting of muscular dystrophy (MD). As life expectancy has improved with treatment of neuromuscular associated respiratory failure, patients surviving into adulthood are at risk of developing cardiomyopathy. However, MD associated cardiomyopathy is often underdiagnosed and undertreated.
Abstract Introduction Genetic neuromuscular diseases (NMDs) constitute a heterogeneous group of rare conditions, including some of the most disabling conditions in childhood. Over the last decade, early diagnosis, multidisciplinary care and anticipatory treatment strategies have improved survival and quality of life of several conditions. Recently, advanced technologies have greatly expanded preclinical and clinical research, and specific therapies have been introduced for three diseases, namely enzyme replacement therapy for Pompe disease (PD), gene expression modulation and gene therapy for Duchenne muscular dys...
Condition: Muscular Dystrophy, Duchenne Intervention: Drug: Eteplirsen Sponsor: Sarepta Therapeutics Not yet recruiting
This article considers the extent of the damage being caused by this.
Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femori...
Authors: Lee S, Lee H, Eun LY, Gang SW Abstract PMID: 31208158 [PubMed - in process]
Emery-Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy . EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) , or mutations in LMNA gene encoding lamins A and C in autosomal dominant and recessive forms . EDMD clinical presentation includes the classical triad of symptoms with early joint contractures involving Achilles, elbows and the neck tendons, progressive muscle weakness and wasting beginning in the humero and peroneal regions, and cardiac disease combining cardiac arrhythmias, conduction defects and cardiomyopathy [4,5].
This study could set the stage for optimizing and developing a new, rapid RNA ISH-based molecular diagnostic assay for future clinical use in FSHD field. PMID: 31209064 [PubMed - as supplied by publisher]