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Why do Myotonic Dystrophy Patients Die?

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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.

 

April 05, 2016; 86 (16 Supplement) APRIL 20, 2016

Causes and Predictors of Mortality in a Large U.S. Myotonic Dystrophy Type 1 Adult Cohort (P5.077)

Julian Duda, Yedatore Venkatesh, William Groh
First published April 8, 2015,
 
 

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

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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

Research Opportunity in Florida

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You can assist researchers on a couple of issues in myotonic dystrophy. Read more about this ongoing study. (Posted in May 2019)

Studies of skeletal muscle and gastrointestinal dysfunction in myotonic dystrophy and controls

Purpose

This study is designed to obtain data regarding 2 aspects of the phenotype in myotonic dystrophy (dystrophia myotonica or DM). These are multi-system diseases leading to symptoms in many regions of the body including skeletal muscles, central nervous system and the GI tract.

The aims of the study are two-fold: 1. to obtain physiological recordings of muscle contraction and motor unit activation in selected skeletal muscles to obtain possible outcome measures for future drug trials as well as understand the physiological underpinnings of motor dysfunction in these patients; 2. to study the role of the gut microbiome in relation to the gastro-intestinal dysfunction in DM patients.

Procedures 

  • Tasks to measure strength, fatigue, force and reaction time
  • Blood and stool samples 

For more details about study procedures, please contact Stephen Gullet:

Eligibility 

  • Over the age of 18
  • Molecularly confirmed DM 1 or DM 2 (symptomatic subjects in whom diagnosis is based on DNA analysis in affected family members will also qualify)
  • Ambulatory with or without assistive devices
  • Competent and willing to provide informed consent and participate in study procedures

Additional criteria apply, for more information please contact Stephen Gullet:

Age

18 to 65
65 and over

Gender

Male
Female

Can be done from home

No

Keywords

Muscular dystrophy, Muscular dystrophy – resources, Neurology

Principal Investigator

S.H. Subramony, MD

Department

Neurology

Contact Information

stephen.gullett@neurology.ufl.edu

352-273-6003

Myotonic Dystrophy Researcher Receives Award

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

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    • 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 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