Symptoms that Bother Patients with DM1 the Most

The study looked at  PRISM-1 for “patient-reported impact of symptoms in myotonic dystrophy type 1” — was conducted in two parts. What was surprising is that Fatigue and mobility are the two items that affect Dm1 patients the most.

Phase 1 involved interviews with 20 people age 21 or older with adult-onset MMD1. (People with congenital- or juvenile-onset MMD1 were not included in this study. These diseases have separate symptoms, onsets, and progression paths)

In the interviews, people were asked to identify the symptoms of DM1 that have the greatest effect on their lives. Recurring similar comments were grouped to identify 221 important DM1 symptoms, which the investigators then divided into 14 themes. All 20 people who were invited to participate in this phase did so.

In phase 2 of the study, questionnaires were sent to 530 adults with MMD1 who had enrolled in the National Registry of Myotonic Dystrophy . This registry, which remains open, is housed at the University of Rochester Medical Center and is supported by the U.S. National Institutes of Health (NIH).. 278 Replied to the study.

Two questionnaires were developed, and recipients were randomly assigned to receive one or the other.

They included each potential symptom of importance identified in the phase 1 interviews and asked responders to evaluate the impact of the symptom on his or her life on a scale of 1 to 6. A score of 1 indicated, “I don’t experience this,” and a score of 6 indicated, “It affects my life severely,” with other scores indicating impact between these two extremes.

The symptom themes that were cited most often by survey responders were, in order:

  • problems with hands or arms (93.5 percent);
  • fatigue (90.8 percent);
  • myotonia — inability to relax muscles at will (90.3 percent); and
  • impaired sleep or daytime sleepiness (87.9 percent).

What impacted people the Most was


Age and the number of CTG repeats impacted these two items more heavily.

Below is the abstract

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

  1. Chad Heatwole, MD, MS-CI,
  2. Rita Bode, PhD,
  3. Nicholas Johnson, MD,
  4. Christine Quinn, MS,
  5. William Martens, BA,
  6. Michael P. McDermott, PhD,
  7. Nan Rothrock, PhD,
  8. Charles Thornton, MD,
  9. Barbara Vickrey, MD, MPH,
  10. David Victorson, PhD and
  11. Richard Moxley III, MD

+ Author Affiliations

  1. From the University of Rochester (C.H., N.J., C.Q., W.M., M.P.M., C.T., R.M.), Rochester, NY; Northwestern University (R.B., N.R., D.V.), Chicago, IL; and David Geffen School of Medicine (B.V.), UCLA Medical Center, Los Angeles.
  1. Correspondence & reprint requests to Dr. Heatwole:

View Complete Disclosures


Objective: To determine the most critical symptoms in a national myotonic dystrophy type 1 (DM1) population and to identify the modifying factors that have the greatest effect on the severity of these symptoms.

Methods: We performed a cross-sectional study of 278 adult patients with DM1 from the national registry of patients with DM1 between April and August 2010. We assessed the prevalence and relative significance of 221 critical DM1 symptoms and 14 disease themes. These symptoms and themes were chosen for evaluation based on prior interviews with patients with DM1. Responses were categorized by age, CTG repeat length, gender, and duration of symptoms.

Results: Participants with DM1 provided symptom rating survey responses to address the relative frequency and importance of each DM1 symptom. The symptomatic themes with the highest prevalence in DM1 were problems with hands or arms (93.5%), fatigue (90.8%), myotonia (90.3%), and impaired sleep or daytime sleepiness (87.9%). Participants identified fatigue and limitations in mobility as the symptomatic themes that have the greatest effect on their lives. We found an association between age and the average prevalence of all themes (p < 0.01) and between CTG repeat length and the average effect of all symptomatic themes on participant lives (p < 0.01).

Conclusions: There are a wide range of symptoms that significantly affect the lives of patients with DM1. These symptoms, some previously underrecognized, have varying levels of importance in the DM1 population and are nonlinearly dependent on patient age and CTG repeat length.


  • Study funding: Support for PRISM-1 was provided by the National Institute of Arthritis and Musculoskeletal and Skin Disorders (1K23-AR055947), the NIH-supported Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (U54NS48843–01), the Muscular Dystrophy Association, the New York State Empire Clinical Research Investigator Program, the Saunders Family Fund, and the University of Rochester Clinical Translational Science Institute.

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