Yale neuroscientist awarded grant to investigate ALS

Junjie Guo, assistant professor of neuroscience, has been awarded a grant of $297,678 from the Muscular Dystrophy Association.
Source: Yale Science and Health News - Category: Universities & Medical Training Source Type: news

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This case report describes a severe adverse event following antisense oligonucleotide treatment for muscular dystrophy that occurred in 6 pediatric patients.
Source: JAMA Dermatology - Category: Dermatology Source Type: research
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.
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: 121 Source Type: research
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...
Source: Pharmacological Reviews - Category: Drugs & Pharmacology Authors: Tags: Expert Rev Clin Pharmacol Source Type: research
Condition:   Muscular Dystrophy, Duchenne Intervention:   Drug: Eteplirsen Sponsor:   Sarepta Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
This article considers the extent of the damage being caused by this.
Source: American Journal of Physical Medicine and Rehabilitation - Category: Rehabilitation Tags: Analysis & Perspective Source Type: research
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...
Source: Clinical Imaging - Category: Radiology Authors: Tags: Musculoskeletal and Emergency Imaging Source Type: research
Authors: Lee S, Lee H, Eun LY, Gang SW Abstract PMID: 31208158 [PubMed - in process]
Source: Korean Journal of Pediatrics - Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
Emery-Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy [1]. EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) [2], or mutations in LMNA gene encoding lamins A and C in autosomal dominant and recessive forms [3]. 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].
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
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]
Source: RNA - Category: Genetics & Stem Cells Authors: Tags: RNA Source Type: research
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