A newly published study using data from the Myotonic Dystrophy Family Registry (MDFR) provides valuable insight into how myotonic dystrophy affects people living with DM1 and DM2.
Click here to read the published article in the Journal of Neuromuscular Diseases!
Researchers analyzed information shared by 1,744 MDFR participants between 2013 and 2024. The results reinforce existing knowledge about the wide-ranging effects of DM while providing additional insight into the relationships among age, genetic repeat length, and several clinical manifestations.
Most importantly, the study demonstrates how information contributed by people living with DM and their families can be transformed into findings that support future research, clinical studies, and treatment development.
1. Daytime Sleepiness Is Common Across DM1 and DM2
Daytime sleepiness was the most commonly reported manifestation in the study, affecting more than three-quarters of participants with DM1 and DM2.
The findings also suggest that daytime sleepiness can begin relatively early and remain common across different age groups. This reinforces the importance of recognizing sleep-related symptoms as a significant part of the DM experience.
2. DM Affects Many Areas of Daily Life
Participants frequently reported difficulty swallowing, difficulty walking, heart conditions, cataracts, fatigue, and pain.
Approximately one-third of participants reported that fatigue severely affected their daily activities. Pain was an especially significant concern for people living with DM2, with nearly two-thirds reporting that pain interfered with their enjoyment of life.
These findings help researchers understand which manifestations have the greatest effect on people outside of a clinic or research appointment.
3. Several Manifestations Were Reported More Often with Age
Among adults with DM1 and DM2, walking difficulties, heart conditions, the use of heart medications, cataracts, cataract surgery, and cancer diagnoses were reported more frequently among older participants.
The Myotonic Dystrophy Family Registry study adds patient-reported evidence to researchers’ understanding of how some aspects of DM may differ across a person’s lifetime.
These findings describe patterns across a large group and do not predict which manifestations an individual will experience.
4. Repeat Length Was Associated with Clinical Manifestations in DM1
Among adults living with DM1, larger CTG repeat expansions were associated with an increased likelihood of reporting several clinical manifestations.
These included difficulty walking, myotonia, heart conditions, cardiac device implantation, fatigue, pain, and the negative effects of daytime sleepiness.
This does not mean repeat length can determine exactly how DM will affect an individual. However, the findings provide additional evidence of a relationship between CTG repeat length and disease manifestations across the larger DM1 population.
This information can help researchers better understand differences among people living with DM1 and identify questions for future studies.
5. Patient-Reported Data Reinforces Previous Research
Many of the patterns identified through MDFR support or extend relationships that researchers have previously observed or suspected.
The findings reinforce the multisystem nature of DM and highlight manifestations, including sleepiness, fatigue, and pain, that may not always be fully represented by traditional clinical measurements.
By adding the experiences of people living with DM to existing clinical and genetic research, the Myotonic Dystrophy Family Registry study provides a more complete picture of the disease.
Your Participation Makes This Research Possible
This publication was made possible by people living with DM and family members who contributed their clinical information and lived experiences to MDFR.
Every participant helps create a stronger resource for academic researchers, clinicians, biotechnology companies, and pharmaceutical companies working to understand myotonic dystrophy.
Researchers can use this information to:
- Identify questions for future research.
- Better understand differences across the DM community.
- Inform the design of clinical studies and trials.
- Select measurements that reflect what matters to people living with DM.
- Support the development of more effective future treatments.
MDF is deeply grateful to everyone who has participated in the Registry. By sharing your experiences and keeping your information current, you are helping turn community knowledge into meaningful scientific findings.
The full paper, “Myotonic Dystrophy Family Registry. The Patient Experience,” was published in the Journal of Neuromuscular Diseases by Sofia Olmos, PhD, Danny Kuei, Kleed Cumming, Tanya Stevenson, EdD, MPH, and Andreas Rohrwasser, PhD, MBA.
Click here to read the open access article!
Add Your Voice to MDFR
Join the Myotonic Dystrophy Family Registry or update your information today. Your participation can help researchers deepen their understanding of DM and pursue new studies focused on improving care, quality of life, and future treatments.
Click here to learn more about the Myotonic Dystrophy Family Registry!
