Investigators at the University of California San Diego, the University of Florida, and the National University of Singapore have recently reported early research that potentially ‘repurposes’ gene editing technology for a set of RNA disorders—myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), a subset of Lou Gehrig’s disease (ALS) patients and Huntington’s disease. They have modified the Cas9 enzyme so it is targeted to toxic RNA, instead of the expanded DNA repeats in these diseases.
Care Tools Research
Understanding cardiac and other DM risk factors and planning for the known complications of DM that may affect you can help protect and maintain your quality of life and that of your loved ones.
New fly models show a DM2 phenotype at least as severe as DM1 and may provide a platform for studies of genetic modifiers and candidate therapy screening in DM.
A large retrospective study helps clarify genotype-cardiac phenotype relationships in adult DM1.
A multi-center study suggests serum cardiac troponin-1 levels predict risks of left ventricular dysfunction in DM1 patients.
The use of anesthesia raises special risks to DM patients, which include heightened sensitivity to sedatives and analgesics. Serious complications are most common in the post-anesthesia period when risk of aspiration and other complications are increased.
MDF has published two versions of its 2016 Anesthesia Guidelines:
- Click here for a handy, one-page summary of the anesthesia guidelines to share with your clinician and anesthesiologist.
- Click here for the complete "Practical Suggestions for the Anesthetic Management of a Myotonic Dystrophy Patient".
New to DM? For here for more information.
Dr. Saman Nazarian, MD, PhD, of Johns Hopkins University, discusses common cardiac symptoms and other issues related to myotonic dystrophy. For questions, please contact Dr. Nazarian at firstname.lastname@example.org.
February is American Heart Month, and MDF has partnered with Drs. Katharine Hagerman and Marianne Goodwin to highlight important research on cardiac issues in myotonic dystrophy for our readers
Dr. Tetsuo Ashizawa, MD, has focused his career on the search for DM treatments and care for those affected. His multi-disciplinary, patient-centric approach to care moves DM research out of the lab and into his clinic at the University of Florida.
- Annual cardiological history and physical examination
- Annual 12-lead electrocardiogram (EKG)
- 24h portable Holter monitor if symptoms suggest cardiac arrhythmias or cardiogenic syncope, or if EKG shows cardiac arrythmias or conduction abnormalities
- Pulmonary hypertension and cor pulmonale
- Cardiomyopathy in rare cases
Preventing sudden death is the highest priority in the care of people with DM1. Sudden cardiac deaths in DM1 are mostly attributable to complete cardiac conduction block and ventricular fibrillation/tachycardia caused by cardiomyopathy.
...How should a DM patient be followed from a cardiac standpoint (e.g. EKGs, echos, etc.)?
Note: An example of a serious cardiac problem would include a very rapid or very slow heartbeat, or arrhythmia (irregular heartbeat).
Dr. William Groh, MD, of the Crannert Institute of Cardiology at Indiana University, explains how DM may impact your heart, and gives an overview of the cardiac electrical system, common symptoms associated with conduction problems, and preventative measures.
Researchers at important academic labs around the US have recently published exciting new information about advances in DM research.
A generic cardiovascular drug called mexiletine, initially developed to treat heart rhythm abnormalities, appears to hold some potential for treating muscle stiffness and other symptoms of non-dystrophic myotonias (NDMs),