Research from the Registry

The information collected by the National Registry is continually used by researchers and the Registry staff to explore a variety of topics and add to the growing body of knowledge on myotonic dystrophy and facioscapulohumeral muscular dystrophy. The results of their work are presented at research conferences, government sponsored health and research workshops, meetings for patient support groups, and in scientific journals.

Information presented about the Registry is further described in the categories listed below:

Published papers
Registry presentations
Investigator presentations

We invite investigators to share additional presentations and papers that reference the National Registry that we may have unintentionally neglected to include on this page. Please send us information on your research that referenced the Registry, and we will gladly include your work.

1.) Published papers that used the Registry

Neoplasms in DM (2009)
Mueller CM, Hilbert JE, Martens WB, Thornton CA, Moxley RT, Greene MH (2009). Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control, July 30 [Epub ahead of print].

This study investigated neoplasms (growths or tumors) in patients with myotonic dystrophy (DM). A neoplasm results from abnormal cell growth and typically becomes a lump or tumor which can be non-cancerous (benign), or cancerous (malignant). Neoplasms have been reported in a small number of DM patients in the medical literature, but a relationship between neoplasms and DM has not been studied thoroughly (more...).

Biopsychosocial Factors of Chronic Pain in DM and FSHD (2009)
Miro J, Raichle KA, Carter GT, O'Brien SA, Abresch RT, McDonald CM, Jensen MP (2009). The impact of biopsychosocial factors on chronic pain in persons with myotonic and facioscapulohumeral muscular dystrophy. Am J Hosp Palliat Care, May 12 [Epub ahead of print].

The current study used a bio-psychosocial model of chronic pain to investigate how patients with DM1 and FSHD adjust to living with pain. Biopsychosocial refers to how a person responds to pain in terms of biology, psychology, and social factors. Researchers and clinicians use biopsychosocial models to study how patients experience chronic pain and which treatments and therapies may be most useful. These models have never been studied in patients with DM and FSHD. Authors of this paper recruited Registry members and other patients with DM and FSHD to further study chronic pain (more...).

Excessive Daytime Sleepiness (EDS) in DM (2008)
Ciafaloni E, Mignot E, Sansone V, Hilbert JE, Lin L, Lin X, Liu LC, Pigeon WR, Perlis ML, Thornton CA (2008). The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology, 70(3):226-230.

Excessive daytime sleepiness (EDS) is a common and often significant symptom for patients with myotonic dystrophy type 1 (DM1). Members of the Registry were recruited to particpate in a study to measure such symptoms. Previous studies have reported that narcolepsy-like sleep-onset REM has been observed in some patients with DM1. Similarly, the hypocretin (Hcrt) neurotransmission, which is impaired in narcolepsy, was reported previously to be reduced in DM1 (more…).

Chronic pain in DM and FSHD (2008)
Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM (2008). Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil, 89(2):320-8.

These authors reported a high prevalence of pain in DM and FSHD patients. The paper highlights that 91% of the participants in this study were members of the Registry (235 of 257 total enrollees). The paper also highlights the eagerness of our population to participate in research, as 296 individuals contacted our colleagues at UC-Davis to participate, of which, 235 (79.4%) subjects completed and returned their questionnaires (more…).

Expression profile of FSHD (2006)
Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R (2006). Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology, 68:569-577.

Researchers continue to investigate the mechanisms of FSHD. Members of the Registry were recruited to volunteer for a clinical study and provide muscle tissue and blood samples. The development of a more thorough understanding of the biological processes that are disrupted in FSHD has been a central goal for scientists involved in FSHD research for many years. It has been suggested that the DNA deletion on chromosome 4 affects the functionality of the genes surrounding the deletion area (more…).

Pregnancy and delivery outcomes in FSHD (2006)
Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R (2006). Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology, 67(10):1887-9.

More information is needed regarding obstetric risk and birth outcomes for women with FSHD. Investigators at the University of Rochester conducted a clinical study to address this need. They recruited women with FSHD who were enrolled in the National Registry. Questionnaires were sent to members of the Registry who were interested in participating in this clinical study. The questionnaire focused on genetic counseling, severity of FSHD symptoms during pregnancy, and complications of pregnancy and birth (more…).

Failure of MBNL1-dependent post-natal splicing transitions in DM (2005)
Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA (2006). Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Human Molecular Genetics, 15(13):2087-2097.

Investigators of this study recruited members of the Registry to study why certain proteins expressed in skeletal muscle, specifically CUG repeat binding protein 1 (CUG-BP1) and muscleblind like (MBNL), are involved in the defective splicing of select pre-mRNA in DM1 and DM2. However, information is limited on the degree and developmental regulation of CUG-BP1 and MBNL involvement (more…).

2.) Presentations from the leaders and staff of the Registry

International Myotonic Dystrophy Consortium (September 2009)

Spectrum of disease manifestations of juvenile myotonic dystrophy type 1 (JDM) patients
The full spectrum of the clinical manifestations of juvenile myotonic dystrophy (JDM), or childhood-onset myotonic dystrophy, is not entirely understood. Little information is available on the symptoms, progression of the disease over time, and other characteristics of JDM and how these characteristics compare or contrast with patients having congenital (from birth) and adult-onset forms of DM1. We investigated the impact of disease in congenital DM (CDM) and JDM by analyzing patient reported data and reviewing patient medical records of members of the National Registry (more...).

Diagnostic odyssey of myotonic dystrophy type 2 (DM2) patients
Delays in receiving an accurate diagnosis can have a significant impact on the burden of disease for patients, on family planning, and on the management of their symptoms. Colleagues from Finland have hypothesized that many DM2 patients are misdiagnosed because symptoms of DM2 often overlap with those of other more common disorders. We investigated diagnostic delay in myotonic dystrophy type 1 (DM1) and DM2 patients enrolled in the National Registry by analyzing patient-reported data and reviewing patient medical records (more...).

International Myotonic Dystrophy Consortium (September 2007)

Gastrointestinal (GI) symptoms in myotonic dystrophy type 1 (DM1) patients enrolled in the NIH Registry
Gastrointestinal (GI) problems are a frequent and serious complaint in DM1 patients. The cause of GI disturbances in DM1 remains unclear and limited information is available about the overall prevalence of symptoms and most frequently used treatments. We reviewed the information provided by members of the Registry in order to examine the prevalence of GI symptoms and the types of medications that are used. We also investigated if other characteristics (age of symptom onset, weight, CTG repeat size) were linked to experiencing GI symptoms (more…).

American Academy of Neurology Meeting (April 2007)

Neoplasms in myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and causes progressive muscle weakness, myotonia and multi-system complications. DM1 is the result of a specific genetic mutation referred to as a DNA expansion or an increase in the amount of DNA that is normally located on a chromosome. The mutation causes the cells in muscle and other tissue to function incorrectly. The extent to which this mutation affects the body is not entirely understood. For example, there is limited information on how the genetics of DM1 may potentially influence various types of benign (non-cancerous) and malignant (cancerous) tumors (more…).

Clinical description of infantile facioscapulohumeral muscular dystrophy (FSHD)
Approximately 5% of individuals diagnosed with FSHD have a more severe sub-type of the disease which begins in early childhood, referred to as infantile/childhood FSHD. The diagnosis of infantile FSHD is based upon two symptoms; facial weakness before the age of five and shoulder weakness before the age of ten. Additionally, many of those diagnosed with infantile FSHD report symptoms of hearing loss and problems with retinal tissue. There is very little information available on the symptoms and other characteristics of infantile FSHD (more…).

American Academy of Neurology meeting (April 2006)

Prominent signs of disease progression: Data from the National Institutes of Health’s (NIH) Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) Patients and Family Members

The American Academy of Neurology meeting, is described as, “one of the world's largest gatherings of neurology professionals, bringing together more than 10,000 neurologists and neuroscientists.” Our poster described the short term progression of DM and FSHD symptoms using information that was gathered from Registry members annual update forms. The presentation also sought to encourage researchers to take advantage of the valuable resource that the Registry provides. A section of our presentation was included in a program that highlighted the most interesting and relevant research being presented in the area of neuromuscular diseases.

International Myotonic Dystrophy Consortium (October 2005)

Presented information collected from all members of the Registry about the burdens of DM and offered improvements for measuring patient reported symptoms at a research conference sponsored by the International Myotonic Dystrophy Consortium. Researchers and patients from all around the world attended this conference in Quebec City, in October, 2005 to learn about new advances and research in Myotonic Dystrophy.

Burden of Muscle Disease Workshop (January 2005)

The Burden of Muscle Disease Workshop sponsored by the National Institutes of Health (NIH) invited top researchers in several fields including medical economics, physical therapy, psychology, muscular dystrophy, and cell biology to attend this conference. The Registry presentation illustrated that the burdens of DM and FSHD extend beyond physical symptoms, by affecting areas such as employment, mood and sleep. The additional support that patients often need, including medication, canes, wheelchairs and therapies was also discussed.

3.) Presentations from investigators using the Registry

Chronic pain in DM and FSHD
R. Ted Abresch, Director of Research for the Rehabilitation Research and Training Center in Neuromuscular Diseases (RRTC/NMD) at the University of California, Davis presented information on pain in FSHD and other neuromuscular diseases. He presented this information at the 2007 meeting of the FSHD International Research Consortium in San Diego, California. Ted and colleagues from the University of Washington, Seattle, conducted a clinical study to assess the intensity and location of pain and various treatments and their perceived effectiveness.

Please see the link above [Chronic pain in DM and FSHD (2008)] to learn more information on this study and its results.

Neoplasms in myotonic dystrophy type 1
Colleagues from the National Cancer Institute, Dr. Christine Mueller and Dr. Mark Greene, presented information on data from the National Registry at the 56th Annual Meeting of the American Society of Human Genetics in October 2006. They collaborated with Registry investigators to analyze tumors that have been reported by DM1 patients enrolled in the Registry. They summarized information published by other researchers in medical journals that describe certain types of tumors found in DM1 patients.

Please see the link above [American Academy of Neurology Meeting, April 2007] to learn more information on this study and future plans of the National Registry.

Hypersomnolence in Myotonic Dystrophy
Dr. Emma Ciafaloni from the University of Rochester Medical Center has presented information about the effects of excessive sleepiness in Myotonic Dystrophy at several research conferences. She has presented information at the American Academy of Neurology, Associated Professional Sleep Societies, and the International Myotonic Dystrophy Consortium. Her research indicates that excessive sleepiness is highly prevalent in DM patients but the reason or biological mechanisms for this sleepiness remain unknown. Future research may help discover the reasons and lead to new treatments.

Pregnancy and delivery outcomes in FSHD
Dr. Ciafaloni has also presented about the course and outcome in pregnancy from women with FSHD at the American Academy of Neurology Conference. Her research found that pregnancy and birth outcomes were generally favorable in this group of women with FSHD. However, the rate of a certain obstetrical issues such as increased number of cesarean sections supports the need for additional research.