French Myotonic Dystrophy Registry

Posted on June 12, 2019 by super_admin

A new article gives good information on the breakdown of DM1 in the French population.

Fig. 3 Cartography of place of residence of enrolled DM participants. a The individual representation (N = 2875). Each dot refers to one patient
place of residence and dots position is allocated to a random position in the corresponding department (top left). b The regional distribution
according to the density of population (N = 2875). Darker the green is, more the DM is prevalent in the department (top right). c Distribution of
DM-Scope Registry enrolled patients among paediatric French neuromuscular expert centres (26 centres, N = 255). The number of enrolled
patients is spot-size dependent (bottom left). d Distribution of DM-Scope Registry enrolled patients among adult French neuromuscular expert
centres (29 centres, N = 2620). The number of enrolled patients is spot-size dependent (bottom right)

French-Registry-article-dm1-myotonic-dystrophy

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

Kristy K. Schumacher Obituary

Posted on June 4, 2019 by super_admin

CHIPPEWA FALLS, Wis. — Kristy K. Schumacher, 48, of Chippewa Falls passed away Sunday, June 4, 2017, at Wissota Health and Vent Center in Chippewa Falls, after a long battle with myotonic dystrophy.

She was born in La Crosse to Edwin and Valeria Schumacher Jan. 3, 1969. She went to school at Onalaska High. She loved to play bingo, Yahtzee and enjoyed making arts and crafts. She was Tim McGraw’s and Shania Twain’s biggest fan. Kristy was also an avid dolphin collector. Those who knew her, knew that she was as sassy as they come, especially to those at Wissota Health & Vent Center. Kristy was known for saying “It is what it is.”

Kristy is preceded in death by her parents; her brother, James; her nephew, Michael; grandparents, Walter and Mae Volk, and Edward and Kathrine Schumacher.

She is survived by her daughter, Kayla of Madison, Wis.; her siblings, Jeff (Mary) of La Crosse, Peter (Maureen) of La Crosse, David (Patty) of La Crosse, Paula (Chris) Kettner of Mazomanie, Wis., Stevie (Carol) of Fond du Lac, Wis., Ronnie (Carmen) of Menomonie; special nieces and nephews, Cameron, Jordy, Syrus, Aubrey, Khloe and many more; her special friends, Kathy Greener, Scott and Lisa Neumister and Libby Scarpelli.

A celebration of life will be held at 1 p.m. Sunday, June 11, at Wissota Health & Vent Center, 2815 County Hwy. I, Chippewa Falls, WI, 54729, at the Chapel.

Chippewa Valley Cremation Services of Altoona, Wis., is assisting the family with arrangements. To sign the guestbook or share a memory online, please visit www.chippewavalleycremation.com.

In lieu of flowers, memorials may be sent to Paula Krause, 313 Scott St. Mazomanie, Wis., 53560.

Kristy’s family wishes to extend our sincere thanks to Wissota Health & Vent Center for the love and compassion you gave Kristy, and for their patience with Kristy’s sassiness. A special thank you to Janet, Amy, Lindsey, Kareen, Kris, Sheri, Lolly, Cythnia, Becky, and the rest of the wonderful staff.

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

Richard Weston's Myotonic Dystrophy Blog

Information About Myotonic Dystrophy Type 1

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