Search Results for "Myotonic Dystrophy Lipoma"
Original Source: Myotonic dystrophy and lipoma: a new association.
A 58-year-old man developed muscle weakness and had more than 1,000 CTG repeats in the myotonin protein kinase gene. He was diagnosed as having myotonic dystrophy. At the time of diagnosis, a large tumor was detected in his abdominal cavity on CT scan examination. He died from pneumonia 6 years later. At autopsy, the abdominal tumor was diagnosed as a lipoma. Several types of tumor have been reported to be associated with myotonic dystrophy type 1; however, this is the first detailed clinical case demonstr...
Matching Channels
Muscular dystrophy is a group of degenerative inherited disorders causing muscle weakness and loss of muscle tissue. The different types are Becker muscular dystrophy, Duchenne muscular dystrophy, E...
Duchenne muscular dystrophy - DMD
Duchenne muscular dystrophy (DMD) is a severely debilitating childhood neuromuscular disease that affects 1 in 3,500 live male births. This rare disease is caused by mutations in the dystrophin gene...
Exon Skipping in development for DMD
The dystrophin gene is the largest gene in the body, consisting of 79 exons. Exons are small sequences of genetic code which, via an intermediate step involving RNA, lead to the assembly of sections...
Antisense therapy is a form of treatment for genetic disorders or infections. When the genetic sequence of a particular gene is known to be causative of a particular disease, it is possible to synth...
BioPortfolio has created a number of Twitter accounts to help you keep upto date on the latest news, research papers, reports and clinical trials on a selected range of important and popular topics....
Matching News
Key to Myotonic Dystrophy May Be in Mouse Study (CME/CE)
(MedPage Today) -- Experiments in mice may have charted the way toward a treatment for myotonic dystrophy type 1, researchers reported.
Myotonia less important to patients with myotonic dystrophy than other symptoms
Complex, multi-system diseases like myotonic dystrophy - the most common adult form of muscular dystrophy - require physicians and patients to identify which symptoms impact quality of life and, conse...
MDA Launches Clinical Network to Speed Myotonic Dystrophy Research
TUCSON, Ariz. (PRWEB) January 23, 2013 The Muscular Dystrophy Association (MDA) has launched a clinical research network that will provide an infrastructure for trials of new treatments for myot...
Drug delivery strategy eliminates myotonia symptoms in mice with myotonic dystrophy
(Mary Ann Liebert, Inc./Genetic Engineering News) By targeting the specific mutation that causes the hereditary neuromuscular disease myotonic dystrophy, it is possible to neutralize the mutant RNA to...
New hope for patients with myotonic dystrophy
There's hope for patients with myotonic dystrophy. A new small molecule developed by researchers at the University of Illinois has been shown to break up the protein-RNA clusters that cause the diseas...
Scientists design small molecules that recognize myotonic dystrophy-associated RNAs
Scientists from the Florida campus of The Scripps Research Institute (TSRI) have developed a new approach to alter the function of RNA in living cells by designing molecules that recognize and disable...
Choroidal new vessels in type 1 myotonic dystrophy-related macular dystrophy respond to anti-VEGF therapy Eye advance online publication, October 5 2012. doi:10.1038/eye.2012.197 Authors: M...
Isis takes on myotonic dystrophy
Researchers at the University of Rochester and Isis have come up with an efficient way to treat symptoms of myotonic dystrophy type 1 in mice using systemically delivered antisense oligonucleotides. T...
Matching PubMed Articles
Myotonic dystrophy and lipoma: a new association.
A 58-year-old man developed muscle weakness and had more than 1,000 CTG repeats in the myotonin protein kinase gene. He was diagnosed as having myotonic dystrophy. At the time of diagnosis, a large tu...
Correlates of tumor development in patients with myotonic dystrophy.
Patients with myotonic dystrophy (DM) have recently been reported to be at increased risk of tumor development, but clinical associations related to this observation are unknown. We calculated the odd...
Up to one-third of patients with myotonic dystrophy type 1 die suddenly. Thus far, no intervention has effectively prevented sudden death.
Diffusion tensor imaging was used to evaluate cerebral white matter in 16 patients (ages 9-18) with myotonic dystrophy type 1 compared to 15 matched controls. Patients with myotonic dystrophy showed a...
Myotonic muscular dystrophy, RNA toxicity, and the brain: trouble making the connection?
The study of rare genetic diseases is complicated by the inaccessibility of relevant cells and tissues, especially for neurologic disorders. In this issue of Cell Stem Cell, Marteyn et al. (2011) use...
