UMass Medical School Works To Ease Challenge Of Duchenne Muscular Dystrophy

WORCESTER (CBS) — Caring for a child with Duchenne Muscular Dystrophy can be incredibly challenging, but thanks to a local family’s philanthropy and a local medical school’s commitment, treatment is becoming easier for patients and their families. At just over a year old, Diego Ramirez was diagnosed with Duchenne Muscular Dystrophy, or DMD, a progressive genetic disorder in boys that leads to muscle breakdown. “His muscles felt a little tighter for me, and I felt he was delayed in his development,” said Diego’s mom, Leslie Guzman. Most boys with DMD lose the ability to walk by age 12 and over time, develop a host of other health problems, requiring families to invest large amounts of time and money shuttling from specialist to specialist. Tracy Seckler’s son, Charley, was diagnosed with DMD at age four. They traveled all the way to Cincinnati for comprehensive care. “Then there are the other people who unfortunately don’t have the means or the availability to travel far away,” said Tracy. Tracy and her husband established Charley’s Fund, a non-profit which has enabled UMass Medical School to open a new program designed specifically for patients with DMD. “As a mom, I’ve always known that there was something missing here in the Northeast, “ explained Tracy. Dr. Brenda Wong is one of the country’s preeminent DMD experts and the program’s director. “We provide them with this med...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health Healthwatch Syndicated CBSN Boston Syndicated Local Dr. Mallika Marshall Duchenne muscular dystrophy Source Type: news

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Source: The Medical Futurist - Category: Information Technology Authors: Tags: Future of Medicine digital health Healthcare technology digital technology Source Type: blogs
Amber Guzman, 32, from Long Beach, California, has muscular dystrophy. The incurable condition has left Amber in a wheelchair.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Loss of dysferlin (DYSF) protein in humans results in limb-girdle muscular dystrophy 2B, characterized by progressive loss of muscles in the distal limbs with impaired locomotion. The DYSF-null (Bla/J) mouse develops severe steatotic muscles upon aging. Here, we report a marked increase in adipocytes, especially in the psoas and gluteus muscles but not in the soleus and tibialis anterior muscles in aged Bla/J mice compared with WT mice. There was a robust upregulation in the mRNA expression of enzymes involved in lipogenesis and triacylglycerol (TAG) synthesis pathways in the steatotic skeletal muscles. Lipidomic analysis ...
Source: The Journal of Lipid Research - Category: Lipidology Authors: Tags: Research Articles Source Type: research
Conclusions: The ACTA1-MCM;FLExDUX4 bi-transgenic mouse model expresses a chronic low level of DUX4-fl and has mild pathology and detectable muscle weakness. The onset and progression of moderate to severe pathology can be controlled via tamoxifen injection to provide consistent and readily screenable phenotypes for assessing therapies targeting DUX4-fl mRNA and protein. Thus, these FSHD-like mouse models can be used to study a range of DUX4-fl expression and pathology dependent upon investigator need, through controlled mosaic expression of DUX4.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Contributors : Mattia Quattrocelli ; Elizabeth M McNallySeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusDuchenne muscular dystrophy is caused by genetic defects in the gene encoding dystrophin and leads to progressive muscle degeneration. Glucocorticoid steroids are current mainstay pharmacological regimen to decrease muscle inflammation and prolong the ambulatory period in these patients, but daily intake of glucocorticoids like prednisone and deflazacort causes adverse side effects like osteoporosis, adrenal suppression, insulin resistance and obesity. Intermittent ste...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
AbstractOf all genetic mutations causing human disease, premature termination codons (PTCs) that result from splicing defaults, insertions, deletions, and point mutations comprise around 30%. From these mutations, around 11% are a substitution of a single nucleotide that change a codon into a premature termination codon. These types of mutations affect several million patients suffering from a large variety of genetic diseases, ranging from relatively common inheritable cancer syndromes to muscular dystrophy or very rare neuro-metabolic disorders. Over the past three decades, genetic and biochemical studies have revealed t...
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
Publication date: 30 November–6 December 2019Source: The Lancet, Volume 394, Issue 10213Author(s): Eugenio Mercuri, Carsten G Bönnemann, Francesco MuntoniSummaryMuscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac and respiratory muscle involvement vary greatly. This development and advances in the field of supportive...
Source: The Lancet - Category: General Medicine Source Type: research
Publication date: 30 November–6 December 2019Source: The Lancet, Volume 394, Issue 10213Author(s): The Lancet
Source: The Lancet - Category: General Medicine Source Type: research
Myotonic dystrophy type 1 (DM1) is the most frequent adult-onset muscular dystrophy with an incidence of approximately 1:8000 among Caucasians. The disease, inherited as an autosomal dominant trait, is caused by an abnormal expansion of a CTG trinucleotide repeat located in the 3 ′ untranslated region of the DM1 protein kinase gene, on chromosome 19p35 [1,2]. DM1 is a multisystem disorder, which affects, beside the skeletal muscle, other organs and tissues, including the eye, with premature cataracts, low intraocular pressure (IOP) and retinal abnormalities [3,4].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Condition:   Duchenne Muscular Dystrophy Interventions:   Drug: Casimersen;   Drug: Eteplirsen;   Drug: Golodirsen Sponsors:   Kevin Flanigan;   Sarepta Therapeutics, Inc. Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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