FastDM1 Test has High Accuracy

Posted on June 12, 2019 by super_admin

A New test has been available in recent time to detect myotonic dystrophy. From Websites it looks as though this is labeled “For Research Only” A study attached shows that the test seems very accurate. And a figure on one of the web sites seems to indicate that it may be used for in vitro fertilization. there seems to be two type of kits one that gives an exact sizing when the repeats are less than 180 and another that detects over 180 repeats. When you click on the pictures of the test below it takes you to a related test which can give you an idea of what

Myotonic Dystrophy 1 FASTDM1

Sales start during ESHG-Barcelona 2016!

Myotone Dystrophy Type 1 (DM1, Steinert Disease) is the most common form of muscular dystrophies by adults. In non-molecular testing methods for DM1, there is a risk of confusion due to overlapping symptoms with other neuromuscular diseases. A clear diagnosis is only possible molecular-genetic. TNR Diagnostics develops assays to detect the size of CTG Repeat expansions on the DMPK gene. Early diagnoses and associated symptom management can bring significant relief to affected patients.

Molecular genetic testing of the DMPK gene is necessary in individuals with suspected muscle weakness. Early diagnosis of DM1 patients would allow early intervention with medications for symptoms such as heart problems, diabetes mellitus and cataract.

Brochure to download here.

Change of landscape for muscular dystrophy testing

The FastDM1™ are a complete series of robust molecular diagnostic kits that meet the comprehensive testing requirements. Please click on the product image for more information about the various test kits .

DMPK Identification Kit DMPK Sizing Kit

Possible use for FastDM1™

The CTG repeat rate in the DMPK gene is responsible for muscle weakness in the affected individuals and causes a number of symptoms, such as cardiological problems, cataracts and diabetes mellitus. FastDM1™ DMPK analysis kits enable high-throughput sample processing without compromising sensitivity.

FastDM1-Diagnostic-Test-article

Why do Myotonic Dystrophy Patients Die?

Posted on June 3, 2019 by super_admin

Myotonic Dystrophy patients have a shorter lifespan according to this study from 2016. A comprehensive review shows an average age of death at about 60 years. Lung issues and Heart Issues are the major casues of death. Sudden cardiac failure occurs in 27% of patients.

Abstract

Background: There is limited data on the causes and predictors of mortality in patients (pts) with myotonic dystrophy type 1 (DM1) evaluated and treated with modern medical therapy in the U.S. Objective: To determine the epidemiology of mortality in U.S. patients with DM1. Methods: Analysis from a U.S. registry with clinically- and genetically-verified adult DM1 pts (age at entry≥18 yrs) enrolled at MDA clinics (1997-2005) and prospectively followed (study entry-N=406; age: 42±12 yrs; male: 205 (50.5[percnt]); CTG repeats: 629±386; muscular impairment rating score (MIRS): 3.2±1.0). Causes of death were adjudicated by death certificate and medical records review. Results: By last follow-up (11.2±4.2 yrs), 170 (41.9[percnt]) of pts had died with a median age at death of 55.4 yrs. Causes of death in the 170 pts were respiratory failure (90, 52.9[percnt]), sudden unexpected possibly cardiac (47, 27.6[percnt]), non-sudden cardiac (8, 4.7[percnt]), non-sudden other (21, 12.4[percnt]), and uncertain cause (4, 2.4[percnt]). The median survival age was 60.5 yrs. Study entry characteristics predicting all-cause mortality using survival analysis included age (per decile, RR 1.5; 95[percnt] CI 1.3-1.7, p<0.001), MIRS (per 1-level increase, RR 1.7; 95[percnt] CI 1.5-2.1, p<0.001), CTG repeat length (per1-log increase, RR 1.9; 95[percnt] CI 1.2-3.0, p=0.006), cardiac diagnoses (if present, RR 2.7; 95[percnt] CI 2.0-3.7, p<0.001), and an abnormal EKG (if present, RR 2.4; 95[percnt] CI 1.7-3.3, p<0.001). Conclusions: Despite modern therapy, adult DM1 pts in the U.S. have a shortened lifespan. The most common causes of death are respiratory failure followed by cardiac causes. Predictors of death include older age, worsened muscular disability, greater CTG repeat length, and presence of cardiac issues either a diagnoses or abnormal EKG. Study Supported by: Research grant with Biogen, Inc. and Isis pharmaceuticals

Disclosure: Dr. Duda has nothing to disclose. Dr. Venkatesh has nothing to disclose. Dr. Groh has received personal compensation for activities with Isis Pharmaceuticals.

Cancer and Myotonic Dystrophy

Posted on June 2, 2019 by super_admin

There have been reports of increased cancer risk in patients with Myotonic Dystrophy. another study was just published highlighting the risk of cancer in this disease. The conclusion of the study was

Conclusion: There is an increased risk of death, and probably cancer, in relatives with DM1 and in those whose DM1 status is unknown. This suggests a
need to perform a careful history and physical examination, supplemented by
genetic testing, to identify family members at risk for DM1 and who might
benefit from disease-specific clinical care and surveillance.

Cancer-and-Myotonic-Dystrophy-Feb-2019

Myotonic Dystrophy Researcher Receives Award

Posted on May 22, 2019 by super_admin

https://news.illinois.edu/view/6367/787310

Images
- The Barry M. Goldwater Scholarship and Excellence in Education Program was established by Congress in 1986 to honor Goldwater, who served 30 years in the U.S. Senate.

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CHAMPAIGN, Ill. — University of Illinois student Philip Kocheril was awarded a Barry M. Goldwater scholarship for the 2019-20 and 2020-21 academic years in recognition for his potential to contribute to the advancement of research in the natural sciences, mathematics or engineering.

The Barry M. Goldwater Scholarship and Excellence in Education Program was established by Congress in 1986 to honor Goldwater, who served 30 years in the U.S. Senate. The program encourages the continued development of highly qualified scientists, mathematicians and engineers by awarding scholarships to sophomores and juniors from the U.S. who intend to pursue doctorates. The scholarship provides recipients $7,500 annually for tuition, fees, books or room and board.

Philip Kocheril, of Champaign, a third-year chemistry major at Illinois, was awarded a Barry M. Goldwater scholarship in recognition for his potential to contribute to the advancement of research in the natural sciences, mathematics or engineering.

Photo provided

This year’s 496 Goldwater Scholars were selected on the basis of their demonstrated leadership and academic promise in the fields of science or engineering. The Goldwater Foundation doubled the number of grantees this year as the result of a partnership with the Department of Defense National Defense Education Programs. Over 5,000 students across the country submitted applications, of which 1,223 mathematics, science and engineering students were nominated by the faculties of colleges and universities nationwide.

According to David Schug, the director of the National and International Scholarships Program at Illinois, “Our campus committee unanimously and enthusiastically endorsed Phil based on his proven initiative, deep research experiences – resulting in first- and second-authored publications and national presentations – and extraordinary letters of support.”

Kocheril, of Champaign, is a third-year chemistry major with a minor in music. He aspires to obtain a Ph.D. in chemistry and conduct research in a university setting. While attending Champaign Centennial High School, Kocheril worked with former U. of I. professor Benjamin McCall performing mid-infrared spectroscopy on molecular ions found in the interstellar medium. In fall 2018, he joined the drug-discovery project of professor Steven Zimmerman and designed, synthesized and modeled potential small molecule therapeutics for myotonic dystrophy.

Kocheril is a member of both the Campus Honors Program and the James Scholar Honors program at Illinois, with a perfect 4.0 GPA. An avid musician, Kocheril is a member of professor Tito Carrillo’s jazz trumpet studio, and he composes and performs jazz with numerous ensembles.

Editor’s note: For more information, contact David Schug, National and International Scholarships Program director, 217-333-4710, email topscholars@illinois.edu

New Info about the AMO Myotonic Dystrophy Drug

Posted on May 9, 2019 by super_admin

Here is some information from the Muscular Dystrophy Group in the UK about the AMO drug that will be tested in the USA. I may be difficult to read if so click here for the link to the full report and look on page 9-10 https://issuu.com/musculardystrophycampaign/docs/mduk_campaign_april_2019

Richard Weston's Myotonic Dystrophy Blog

Information About Myotonic Dystrophy Type 1

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