Interesting Findings Reported in Recent DM Research Studies on Facial Recognition

Published on Fri, 04/18/2014

Interesting Findings Reported in Recent DM Research Studies on Facial Recognition

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. Katharine Hagerman, Research Associate at Stanford University Neuromuscular Division and Clinics, provides a summary of the Swedish facial recognition study.

Facial Memory Deficits in Myotonic Dystrophy Type 1
J Lundin Kleberg, C Lindberg, and S Winblad (2014) Acta Neruol Scand

Three Swedish researchers recently assessed cognitive differences seen in people with type 1 myotonic dystrophy (DM1). Their previous studies had shown that people with DM1 had a reduced ability to recognize facial emotions, and this correlated with lower sociability. In order to further assess factors affecting sociability in DM1, participants were given pictures of 15 different faces, and were later asked to pick out which faces they had seen before from a set of 30 pictures. Overall, 36% of participants with DM1 had impaired memory of faces, compared to 13% of participants without DM1.

Those with DM1 who had impaired memory of faces tended to falsely recognize faces (false positives), and upon further cognitive testing this group had reduced performance in tests of spatial coordination and motor skills. The researchers believe the impaired facial recognition seen in some people with DM1 indicates deficits in how the information about faces is perceived and stored. They suggest future studies should use eye-tracking to see how people with DM scan pictures to store information. They also recommended conducting MRI studies to see how the brain may differ both in structure and function in those with DM.

For the article abstract click here.  


MDF Announces FAF Success

Published on Fri, 03/28/2014

SAN FRANCISCO, CA (March 28, 2014): MDF has published the results of its first-ever Fund-a-Fellow Program Assessment, measuring the impact of the first five years of its post-doctoral fellowship grant program. The assessment was designed to evaluate whether the program met its objectives, which include:

  • Attracting new scientists to the field of myotonic dystrophy (DM) research;
  • Increasing overall funding and activity in the field of DM research;
  • Expanding knowledge and understanding of DM;
  • Increasing the number of labs and academic programs engaged in, or expanding their engagement in, DM research.

​The assessment was based on the following participation:

  • 73 percent response rate for MDF Fellows;
  • 70 percent response rate for supervising Primary Investigators (PIs).

The Fund-a-Fellow program provides post-doctoral students within three years of receiving their doctorate a grant of $100,000 over two years to conduct clinical, basic, or applied research in any of the following areas:

  • Pathogenesis of myotonic dystrophy;
  • Studies of disease progression that are necessary steps toward therapeutic trials;
  • Best practices and management of myotonic dystrophy;
  • Therapeutic and diagnostic development.

“The assessment results show that we are indeed attracting interest and retaining researchers in myotonic dystrophy research with 71 percent of respondents reporting they’ve remained in the DM field, and 75 percent reporting that the fellowship was ‘very important’ or ‘important’ in their efforts to do so,” explains Eriko Nasser, MDF Research Director. “MDF's fellowships have proven to be an important program in the Foundation's effort to fulfill its mission of Care and a Cure for DM patients by engaging postdoctoral research students early in their career and influencing the focus of their life’s work.”

A majority (60 percent) of MDF Fellows have gone on to secure additional research funding from organizations such as the National Institutes of Health (NIH) and have authored important research publications to help drive interest in myotonic dystrophy at academic research institutions and pharmaceutical companies. “By providing funding for DM fellowships, MDF is helping influence participation in DM research. Once there is a researcher established in a lab, then other connections to the disease and to funding are often created,” notes Nasser.

While overall the assessment results were very positive, opportunities were identified to enhance the program's impact, including:

  • Expanding the amount of FAF funding available;
  • Creating partnerships between participating labs, organizations and research institutions;
  • Further engagement opportunities with Principal Investigators and key research colleagues in the labs.

Says Ms. Nasser, “The opportunities outlined in the assessment are all important issues that we plan to address. With confirmation provided by this successful program assessment, we can continue to make the case for growing support for DM research.” For more information about the assessment and the findings call MDF at (415) 800-7777. 

About Myotonic Dystrophy

Described as “the most variable of all diseases found in medicine,” myotonic dystrophy is an inherited disorder that can appear at any age and that manifests differently in each individual. The most common form of adult-onset muscular dystrophy, DM affects somewhere between 1:3000 and 1:8000 people in the US and worldwide, and can cause muscle weakness, atrophy and myotonia, as well as problems in the heart, brain, GI tract, endocrine, skeletal and respiratory systems. There is currently no treatment or cure for DM.

About MDF

MDF is the world’s largest DM patient organization. Its mission is My Cause. My Cure: is to enhance the lives of people living with myotonic dystrophy, and advance research efforts focused on finding treatment and a cure for this disorder through education, advocacy and outreach.


A Conversation with Dr. Richard T. Moxley, III

Published on Fri, 02/21/2014
Dr. Richard Moxley, the Helen & Irving Fine Professor in Neurology at the University of Rochester Medical Center, Director of the Wellstone Muscular Dystrophy Cooperative Research Center at U of R, and a global leader in myotonic dystrophy (DM) clinical care and research, recently talked with MDF about his long and exceptionally distinguished career in neurology. We were particularly pleased to catch up with Mox, as he’s known to his professional colleagues, because of his impact on the field, and because he is one of the most respected and well-loved clinicians in our community.
Dr. Moxley’s initial interest in neurology grew out of a love of sports, a desire to help others and deep curiosity about how muscles work. “Even as a relatively young person growing up in Birmingham, Alabama, I’ve always known I wanted to help people. As a frustrated jock, I also loved learning how muscles worked,” Dr. Moxley explains. 
He attended Harvard University as an undergrad where he majored in biochemical sciences, continued his interest in sports, and increased his interest in metabolism and medicine. He graduated in 1962. Later, while attending medical school at the University of Pennsylvania in the mid-1960s, Dr. Moxley not only met and married his "better half," Joan, but also had the good fortune of meeting Dr. Milton Shy who, in his opinion, is the father of muscle disease in the United States. 
Dr. Moxley was one of many doctors and researchers who studied with Dr. Shy and was influenced by the pioneering work of Dr. Shy and his colleagues. At the same time, Dr. Moxley’s cousin, who was a fighter pilot in the Vietnam War, was complaining of muscle problems and was later diagnosed with myotonic dystrophy, as was his cousin’s younger brother. 
This personal family connection, together with his training with Dr. Shy, further stimulated Dr. Moxley’s interest in skeletal muscle function and disease and led him to apply for a two year assignment as Public Health Service officer at the NIH Heart Disease and Stroke Control Program, where he was assigned to NASA Headquarters, studying exercise physiology and running a cardiac health exercise intervention study. 
After completing his two year PHS assignment at NIH and NASA, Dr. Moxley was slated to return to work with Dr. Shy, but his mentor passed away unexpectedly. Dr. Moxley headed instead to Harvard’s Longwood Neurology Program for training in both adult and child neurology. One of his mentors at the Longwood Program, Dr. David Dawson, encouraged him to continue the study of skeletal muscle disease and during his final year of residency guided Dr. Moxley to contact Dr. Kenneth Zierler, an international authority on muscle blood flow and insulin action at Johns Hopkins Medical Center. 
After completing his neurology residency, Dr. Moxley and his family moved on to Johns Hopkins, where he received a two year Special NIH fellowship award for training as an endocrinology-metabolism fellow. It was there that he learned the human forearm perfusion technique, performed studies of forearm exercise and blood flow, and investigated insulin action, especially its effects on glucose and amino acid metabolism. Dr. Moxley chose this technique because it seemed particularly well suited to the study of forearm metabolism in patients with myotonic dystrophy who have forearm muscle wasting and weakness as well as insulin resistance. 
Over subsequent years Dr. Moxley and colleagues used the forearm method and whole body insulin infusion techniques to characterize the insulin resistance in myotonic dystrophy and evaluate how insulin resistance contributes to muscle wasting, weakness and alterations in glucose and protein metabolism. We now know that the insulin resistance in DM results from a defect in the synthesis of the proper adult form of the insulin receptor in skeletal muscle and that this alteration, caused by the mutation and accumulation of toxic RNA in myotonic dystrophy, probably occurs early in disease progression. 
During the final year of his fellowship at Johns Hopkins, Dr. Moxley talked with his good friend Dr. Gary Meyers, with whom he had trained at Harvard’s Longwood Program and who is still a faculty member of the Department of Neurology at the University of Rochester. 
According to Dr. Moxley, Dr. Meyers said to him, "Mox, you, Joan and the kids ought to look at job opportunities in Rochester. There’s a young fellow there, Berch Griggs, who is interested in muscle disease. You would get along with him great. The chairman of the Department is also super. He is Dr. Robert Joynt." Dr. Meyers’ advice was “right on” and Dr. Moxley says “After 40 years, Gary still gives us good advice and Berch Griggs is a close friend and colleague.”  
In 1974, Dr. Moxley accepted an appointment as Assistant Professor of Neurology and Pediatrics in the Department of Neurology at the University of Rochester, and he, Joan, and his daughter and son moved to Rochester. The Moxleys initially thought Rochester would be too cold and anticipated that they would stay for only two to three years before relocating to a warmer climate.  However, the people of the Medical Center made Rochester a warm and friendly place, and the Moxleys raised their family in a very supportive Rochester community.  
Over the following 40 years Dr. Moxley and Dr. Griggs have pioneered treatments for neuromuscular diseases, focusing on the most common forms of muscular dystrophy: myotonic dystrophy and Duchenne muscular dystrophy. Dr. Moxley and his colleagues have trained doctors and created fellowship programs in neuromuscular disease.   
“When I started in this field, there was no understanding of the molecular basis of DM or Duchenne muscular dystrophy,” Dr. Moxley says. “The discovery of the genes responsible for these forms of muscular dystrophy is fairly recent. My question then was ‘Why do muscles get small? Is that related to why they get weak?’ I was convinced that one reason was the loss of insulin action or other hormones that act like insulin.
“Over the years, the focus of our clinical research had been to parallel the advances in molecular research,” he continues. “Most recently our research has become more translational, using what’s known about molecular biology and understanding how to apply it to the manifestations of DM. What I wanted to do was to see if I could develop new, more effective clinical research approaches using animal models as well as investigations in humans to identify promising ways to treat patients. I also wanted to include people with DM in my studies.” 
Today, Dr. Moxley’s achievements in DM research and care have attracted some of the top doctors and researchers in the field to the University of Rochester, including Dr. Charles Thornton and Dr. Rabi Tawil.  Dr. Moxley has been the recipient of a number of national and international awards, including the annual designation - since 2011 - of “Top Doctor” by U.S. News and World Report, election by his peers for inclusion in “Best Doctors in America” from 1992 to the present, and the Lifetime Achievement Award for Research and Treatment from MDF in 2007.
“I’m optimistic that we’re going to develop treatments for people with DM,” states Dr. Moxley . To get to treatments, though, Dr. Moxley notes: “We absolutely have to work with patients in a grassroots way and get to know them. My hope is that they, in turn, will develop enough of an understanding of their disease to partner with their doctors and assist the research community."
“In the beginning, there were people who discouraged me from studying neurology and DM because their thought was ‘you can’t do anything for them’ – they thought patients with DM were hopeless,” Dr. Moxley admits. “But I don’t believe in hopeless. I believe that anything you can do to help the patient is an improvement. I wasn’t frightened by the fact that we had a big challenge ahead of us. And I’m still not.”


The Mef2 Transcription Network is Disrupted in DM Heart Tissue

Published on Wed, 01/22/2014

Researchers at important academic labs around the US have recently published exciting new information about advances in DM research. The Thomas Cooper Lab at Baylor College of Medicine, Houston, TX released the results of a study that provided important new information on the specific changes that occur in the heart cells of people with DM.

The Mef2 Transcription Network is Disrupted in Myotonic Dystrophy Heart Tissue, Dramatically Altering miRNA and mRNA Expression
Kolsotra et al (Dr. Thomas Cooper’s lab)

A team of researchers at Baylor College of Medicine, under the supervision of Dr. Thomas Cooper, recently published a study examining the changes that occur in the heart cells of people with myotonic dystrophy (DM). Cardiac complications are common in DM, such as abnormal heart rhythms (arrhythmia) and problems with the electrical impulses in the heart that drive it to pump properly (cardiac conduction). The team was led by Dr. Aiunash Kalsotra, the recipient of a 2009 MDF postdoctoral fellowship award.

Given that heart problems are the second most common cause of death in DM, these researchers took a close look at the molecular changes that occur in DM heart cells in order to understand where things go off track. They show that a gene called MEF2 is reduced in DM, causing many small RNA molecules called microRNAs to be reduced. This collection of reduced microRNAs then causes many networks of other genes to be turned off or on inappropriately, and may be one of the reasons why we see cardiac issues in DM. Fortunately, they were able to show that by adding back MEF2 to DM1 cells cultivated in a dish, they could reverse the improper reduction of microRNAs. This study gives researchers a better idea of how the DNA repeat mutations associated with DM may cause symptoms in the heart.

For more information:

Click here to view a pdf of the full article

Click here to read the abstract


Structure of the Myotonic Dystrophy Type 2 RNA

Published on Wed, 01/22/2014

Researchers at important academic labs around the US have recently published exciting new information about advances in DM research. The Matthew Disney Lab at The Scripps Research Institute in Florida announced the results of a study examining RNA toxicity in DM2 patients. Summaries of the studies and results are below, along with links to the PubMed abstracts and complete research publications.

Structure of the Myotonic Dystrophy Type 2 RNA and Designed Small Molecules that Reduce Toxicity Childs-Disney et al (Matthew Disney Lab)

Researchers at Scripps Research Institute in Florida recently examined the structure of the toxic RNA molecule made from the DNA mutation causing myotonic dystrophy type 2 (DM2). Dr. Matthew Disney and his colleagues used a technique called X-ray crystallography to look at the shape of the RNA at the atomic level in order to determine what types of drugs would best attach to it and reduce its toxicity.  

One of the reasons the DM2 RNA is unhealthy in cells is because it changes how other genes are processed and regulated. They showed that their custom-designed drugs were able to reverse the improper processing of a gene known to be affected in DM by varying degrees depending on the design of the drug. This study shows that drugs they previously proposed could bind the toxic RNA are now able to be administered to cells with toxic RNA similar to DM2 and reduce the RNA toxicity.

For more information:

Click here to view a pdf of the full article

Click here to read the abstract


MDF Grant Recipient Develops Tool for Measuring the Impact of Childhood DM on Quality of Life

Published on Wed, 12/18/2013

To support our commitment to research, MDF awards fellowship grants to postdoctoral researchers as part of our annual Fund-A-Fellow (FAF) program. We recently caught up with one of our current grant recipients, Dr. Nicholas Johnson, Assistant Professor of Neurology at the University of Utah.

Dr. Johnson was inspired to focus his practice and research on myotonic dystrophy after working for five years at the University of Rochester with Dr. Chad Heatwole, Dr. Richard Moxley, Dr. Charles Thornton and a number of other clinicians and researchers leading the charge to find new treatments and cure for DM. He opened his practice at the University of Utah in July of 2013 and is excited to be able to treat the large DM population in Utah and surrounding states.

“There is an excellent neurology department at the University of Utah,” Dr. Johnson says, “but previously no one was focused specifically on researching DM. Being here gives me the opportunity not only to provide ongoing treatment to those individuals, but to include many of them in our research studies as well, which is exciting.”

We spoke with Dr. Johnson about his current FAF research.

MDF: First, tell us about the research you’ve been doing as a result of receiving the FAF grant.

NJ: “Sure. Once I received the FAFA grant, I began a project in March 2012 to develop a tool that can be used in a clinic or in research studies to measure how myotonic dystrophy impacts the quality of life of a child with congenital or childhood-onset DM. 

“The tool is called Congenital and Childhood Myotonic Dystrophy Health Index or CCMDHI. It’s a survey-based tool that collects data about quality of life from birth to age 18. Until now, there’s been very little data about how DM progresses from birth to adulthood, but that information is necessary for clinical trials to move forward.”

MDF: Can you tell us about the survey and what you’ve discovered in the two years that you’ve been conducting research? 

NJ: “We interviewed 32 children and 12 parents and created the survey with their direct quotes so we could compare how their symptoms might impact the larger DM population’s quality of life. The survey was then sent out via the Myotonic Dystrophy Family Registry, the National Registry for DM and FSHD at Rochester, and the Canadian Neuromuscular Disease Registry, as well as via Dr. Anne-Berit Ekstrom of Sweden, who takes care of a large population of Swedish patients with congenital or childhood DM.

“One of the salient discoveries was that there was more than expected cardiac issues reported in children when we asked parents about comorbidities. Another interesting result was that 20-30% reported ADHD or autism symptoms.

“Of children over 18 years old, 86% were unemployed, which is pretty significant and tells us that there are a lot of ongoing issues and we need to emphasize social support when we take care of these patients.  Communication problems are a huge issue. Reports of fatigue and difficulty with mobility were also reported.

“Importantly, reported symptoms seemed to vary between birth and age 18 and over. Issues for those with young children were very different from those with older teenage children. And all children were very different from the experience of adult onset DM. Parents reported significantly more communication problems, as well as emotional and social issues. On the upside, there were less myotonia and pain symptoms in the children.”

MDF: What happens next?

NJ: “Now that we have a preliminary instrument, we’re finishing testing and will be moving on to our next study. I’ll be working with a research team here at the University of Utah on a study called ‘Health Endpoints and Longitudinal Progression in Congenital Myotonic Dystrophy’ or HELP CDM.

“This study, which is funded by MDA, is expected to start in January 2014 and will validate CCMDHI while helping find other endpoints that will be important in clinical trials.

“During the study, children from birth to 13 years old will come in for a variety of testing, including strength and functional testing, speech and swallow testing, neuropsychological testing, and respiratory and cardiac testing. Sixty children with congenital DM, who are currently being treated here at the University of Utah and also at and University of Western Ontario, will be measured. Ultimately, we hope this will allow us to transition to successful trials and therapies for the pediatric population.

“Separately, we’ve partnered with MDF to send out a survey via the Myotonic Dystrophy Family Registry to see how women with DM are affected during pregnancy and whether symptoms improve or worsen. That survey will be going out soon. Previously, researchers have looked at complications that can occur during pregnancy but not how quality of life is impacted as a result.”

MDF: You’ve mentioned the national DM registries a few times. Can you speak to why it’s important to join these registries?

NJ: “The Myotonic Dystrophy Family Registry established by MDF and the National Registry for Myotonic Dystrophy at the University of Rochester have been instrumental in recruiting patients for our upcoming HELP CDM study. I mentioned that we’re also using these registries to conduct a number of surveys that will provide us with data we need to keep research moving forward. I encourage everyone to sign up, if they haven’t already. It really does make a difference.”


Key DM Research Discoveries

Published on Fri, 07/26/2013

Timeline of key discoveries in myotonic dystrophy research since DM was first described in 1909. Click on the corresponding timeline entry for links to research abstracts or reviews. 

Abstracts not available for: Greenfield and Fleischer, 1911/1918; Bell, 1947; Vanier, 1960.



Impact of Childhood and Congenital DM on Quality of Life

Published on Tue, 06/25/2013

Nicholas Johnson, MD, and researchers at the University of Rochester recently published an article in The Journal of Child Neurology that describes the impact of childhood and congenital myotonic dystrophy on quality of life. The authors interviewed 21 children with childhood and congenital myotonic dystrophy and 13 parents. After recording these interviews, the authors reviewed transcripts to identify the most important symptoms to parents and children. Overall, participants reported 189 different symptoms. 

Dr. Johnson and his colleagues found that many of the parents and children identified trouble speaking (dysarthria) as the primary symptom that impacted the children’s lives. Other participants identified learning difficulties and problems concentrating as life altering symptoms. Although many of the study participants did not identify a diagnosis of autism specifically, autistic traits, such as a narrow scope of interest, repetitive speech, inappropriate social responses, and inflexibility were reported. 

As expected, many of the symptoms affecting those with congenital and childhood myotonic dystrophy are different from the symptoms of adult-onset myotonic dystrophy type-1. Prior work by Chad Heatwole, MD, MS-CI, the senior author on this study, identified fatigue, hand and finger weakness, and difficulty walking as significantly impacting the quality of life of those with adult-onset myotonic dystrophy type-1. While these symptoms were also reported in children with myotonic dystrophy, their presentation and significance were different. 

Importantly, many symptoms of congenital and childhood myotonic dystrophy, such as communication difficulties, already have available treatments. The authors hope that by identifying the wide range of symptoms affecting children with myotonic dystrophy, doctors will be able to identify critical symptoms earlier and initiate timely treatment strategies.

Dr. Johnson and University of Rochester researchers, with the support of MDF, have used information from this study to develop a survey, which was distributed to US, Canadian and Swedish patients with congenital and childhood myotonic dystrophy. Results from this international group of patients will be used to further define and prioritize the most important symptoms to patients with congenital and childhood myotonic dystrophy. Ultimately this data will be used to help guide researchers in designing future therapeutic trials for these populations. 


A New Study Provides Hope for DM Treatments

Published on Tue, 04/16/2013

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 (DM), providing hope for new treatments. Muscleblind is a type of protein that plays an important role in switching proteins typically found only in babies to proteins found in adults. If this switch isn’t made, an imbalance exists that leads to myotonic dystrophy.

Dr. Swanson states that the team’s work seeks to understand what causes myotonic dystrophy beyond the mutations in the DM1 and DM2 genes.

Dr. Swanson examined which genes were affected by loss of MBNL2 in the brain and found more than 800 affected genes. Many of them had one thing in common: the encoded protein could be made in both fetal and adult forms and MBNL2 appeared to regulate which version was created, according to an article in Neurology Today. One persistent concern that people living with DM1 and DM2 have is the effects of this disease on the brain. “People who don’t have DM usually feel refreshed after a night’s sleep. Myotonic dystrophy patients do not routinely achieve a normal sleep pattern; instead, they have an interrupted series of sleep-wake patterns that do not allow for deep, restful sleep cycles”.

Dr. Swanson created a mouse that lacks the MBNL2 protein as an animal model for DM effects on the CNS. These mice showed normal skeletal muscle structure and function. However, the mice did have DM-related sleep issues, such as a higher number of REM sleep episodes and more REM sleep in general, leading to less restful sleep. In mice lacking MBNL1, another member of the MBNL protein family, the skeletal muscle effects were similar to what is seen in DM. But the central nervous system was not affected, according to Dr. Swanson. 

“What we would like to do now is identify the specific cellular events that are abnormal in the DM brain and see if there is something we can do to treat these disease manifestations with focused therapy development. We would also like to understand the heart and muscle problems in DM. We have developed mice with DM-associated problems and we want to use these mouse models to develop effective drug treatments. Also, we want to understand what is so different about the congenital form of DM. Why does it manifest in babies and children? If we can develop animal models for congenital DM, then we can begin to address the important question of what goes wrong during fetal life,” explains Dr. Swanson.

Recently, therapy development for DM has accelerated and treatments based on anti-sense oligonucleotides will hopefully enter clinical trials in the near future. These new studies focused on the roles of MBNL proteins in CNS function should lead to alternative therapeutic strategies designed to reverse effects caused by expression of the mutant DM1 and DM2 genes.


Ritalin Could Curb Excessive Daytime Sleepiness

Published on Wed, 01/23/2013

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.  

A total of 24 French-Canadian patients who had DM1 and an Epworth Sleepiness Scale score of more than 10 (0-9: normal, 10-24: sleepy and medical advice should be sought) were invited to participate in the 3-week crossover trial of 20-mg/d of methylphenidate versus a placebo. There were two groups in the study; one group took the drug for 3 weeks, followed by a 2-week washout period, followed by 3 weeks of placebo, and the other group took placebo for 3 weeks, followed by a 2-week washout period, followed by 3 weeks of drug. Of the 24 patients (12 men; 12 women; median age 46 years), 17 completed the study. 

Patients’ Daytime Sleepiness Scale and the Epworth Sleepiness Scale, measured at the end of each 3-week period, were used to measure the effectiveness of methylphenidate as a treatment for EDS. The drug’s effectiveness was also determined by a mean sleep latency test, patients’ energy and vitality after the study, and patients’ moods. Tolerability to treatment was monitored by blood pressure, the results of an echocardiogram, and other lab tests. Adverse reactions to the treatment were based on patients’ reporting and were recorded at each visit to the clinic. 

The study concluded that a single 20-mg/d dose of methylphenidate significantly reduced daytime sleepiness in this small group of patients with DM1. The median scores on the Epworth Sleepiness Scale and the Daytime Sleepiness Scale showed a significant change. However, measurements of patients’ moods, energy, and vitality showed no changes, and the mean sleep latency test showed no significant changes. The most common adverse effects included nausea, loss of appetite, and palpitations, as reported by more patients who were treated with methylphenidate than by those receiving the placebo. Three patients stopped taking methylphenidate due to adverse effects that arose during treatment, which included diarrhea, nervousness and irritability. One patient died during the trial, but the autopsy results eliminated methylphenidate as the cause of death. 

For more information about this study, click here