A new review article assesses the current status of and recommends future directions for brain imaging studies in DM1.
Care Tools Research
Given the brain manifestations of DM1, how aware are most patients of the impact and progression of their disease?
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.
Although fatigue represents a substantial burden in DM1, tools must be validated to assess its diverse contributing factors in order to develop clinical trial endpoints and effective therapies.
MDF and the International Myotonic Dystrophy Consortium (IDMC) Will Co-host a Workshop on CNS Endpoints for DM Clinical Trials - Add Your Voice
MDF staff recently attended the 2017 annual meeting of the American Academy of Neurology, in Boston, MA. Here are highlights from that meeting.
Sleep studies are indicated for DM1 patients with disrupted sleep or daytime sleepiness in order to direct selection of the optimal treatment regimen.
Longitudinal assessment of cognitive function in adult- and late-onset DM1 reveals a pattern of cognitive decline that can be modeled as an early-onset and acceleration of normal aging.
Dr. Gallais and his team are conducting a longitudinal study of cognition and central nervous system involvement in DM1. Read an interview with Dr. Gallais on this work here.Highlights from IDMC-10
Dr. Charles Thornton, neurologist at the University of Rochester Medical Center and MDF Scientific Advisory Committee member, has been awarded a Javits Neuroscience Investigator Award from the National Institutes of Health to further his research on muscular dystrophy. Read more about this very distinguished award for “exceptional” investigators and the important work Dr. Thornton is doing here.
The UK-based Wyck Foundation, in partnership with MDF, has awarded a 2016-2017 postdoctoral fellowship to Dr. Ian DeVolder at the University of Iowa to study CNS-related impacts of DM1.
MDF Executive Director Molly White and Research Director Sharon Hesterlee recently attended the International Myotonic Dystrophy Consortium meeting in Paris. Sharon has created a report-out to the community on a selection from the more than 160 presentations and posters, to keep you apprised of some of the newest updates and information.
Several scientists have published the results of important DM research. Dr. Katharine Hagerman, PhD, Research Assistant at Stanford University, has provided MDF with lay summaries of some of this research.
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.
Chad Heatwole, MD, MS-CI, of the University of Rochester (presentation); Sarah Howe of the Marigold Foundation (
Ben Gallais, PhD, of Université de Sherbrooke, and Sarah Tighe, MD, of the University of Iowa, discuss common emotional health problems often associated with chronic illnesses such as myotonic dystrophy and how to address these symptoms.
MDF Fellows Ayal Hendel, PhD, Stanford University (presentation); Suzanne Rzuczek, PhD, Scripps Research Institute of Florida (
- Overall less is known about CNS effects of DM2, and additional research is needed
- As in true adult onset DM1 patients, intellectual impairment or static cognitive impairment is NOT expected in DM2
- Intellectual impairment or static cognitive impairment is NOT expected in patients without clinical features of myotonic dystrophy until adulthood, as opposed to those with early onset symptoms who are not correctly diagnosed until adulthood
- Intellectual impairment due to potentially severe intellectual disability. Speech abnormalities, dysmorphic facial appearance, and lack of facial expression can make mild or normal cognitive impairment appear more marked.
Dr. Chad Ruoff of the Stanford Center for Sleep Science and Medicine discusses common sleep issues associated with myotonic dystrophy, and ways to manage these symptoms.
...What is the relationship between sleep apnea and DM?
Modafinil is the choice although it is expensive. Sleep apnea contributes to the daytime somnolence but patients often continue to have daytime sleepiness after CPAP.
For information on how DM affects executive function, see the Body Systems Tool.
A recently published study from Sweden reported impaired facial recognition in people with DM1 and indicated that there are brain differences that affect how faces are perceived and stored by people with DM1.
Dr. Danielle Sheypuk, a licensed psychologist in New York, NY, was the presenter for our most recent webinar—the last for 2013— titled “Coping with Depression Associated with Having a Chronic Health Condition.”
This breakout session focuses on DM and sleep disorders. It is presented by Dr. John Day, M.D., Ph.D., of Stanford University, and Dr. Belen Esparis, M.D., Mt. Sinai Sleep Disorders Clinic.
As the inaugural presentation in our Living with DM Webinar series, we discuss the decline of executive function in the CNS due to myotonic dystrophy, as well as strategies for managing this symptom, and an update on current CNS research.
Maurice Swanson, Ph.D., Professor of Molecular Genetics and Microbiology at University of Florida, Gainesville, and a team of researchers have found that the muscleblind-like 2 (MBNL2) protein in the central nervous system (CNS) may be responsible for the neurological impacts of myotonic dystrophy
Methylphenidate, a psycho-stimulant drug, also known by its 1948 trademarked name of Ritalin, could be useful in the treatment of excessive daytime sleepiness (EDS) for DM1 patients, according to a recent study conducted by The Department of Human Genetics at the Centre Hospitalier Universitaire de Quebec in Quebec City, Canada.