Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)

Heatwole, Chad; Johnson, Nicholas E.; Bode, Rita; Dekdebrun, Jeanne; Dilek, Nuran; Hilbert, James E.; Luebbe, Elizabeth; Martens, William; McDermott, Michael P.; Quinn, Christine; Rothrock, Nan; Thornton, Charles A.; Vickrey, Barbara G.; Victorson, David; Moxley, Richard T.

doi:10.1212/wnl.0000000000002225

Cited by 54 publications

(63 citation statements)

References 29 publications

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“…This investigation complements earlier work that addressed symptoms affecting other populations with neuromuscular disorders . As with those studies, we found that patients with longstanding and progressive neuromuscular disorders most frequently report difficulties with muscle weakness, fatigue, ambulation, the ability to perform specific activities, and emotional issues .…”

Section: Discussionsupporting

confidence: 84%

Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most

et al. 2019

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Introduction Limb‐girdle muscular dystrophy (LGMD) consists of over 30 genetic conditions with varying clinical phenotypes primarily affecting pelvic girdle, shoulder girdle, and other proximal limb muscles. Studies focusing on the physical, mental, and social effects of this disease from the patient's perspective are limited. Methods Adults with LGMD were interviewed and asked to identify issues that have the greatest impact on their quality of life. Each interview was recorded, transcribed, coded, and analyzed. Results Participants provided 1385 direct quotes. One hundred sixty‐five potential symptoms of importance were identified and grouped into 15 larger themes. The most frequently reported themes included limitations with mobility, difficulty performing activities, social role limitations, and emotional distress. Discussion There are multiple symptoms that alter the lives of adults with LGMD. These affect their physical, emotional, and social health, and may be amenable to medical intervention.

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Section: Discussionsupporting

confidence: 84%

Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most

et al. 2019

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“…The Christopher Project study adds to prior smaller cross‐sectional studies that sought to define the level of DM disease burden from the patient's point of view . This study again provides evidence that symptoms and challenges are not only common and life‐altering, but also under‐recognized and under‐addressed in the clinical setting.…”

Section: Discussionmentioning

confidence: 85%

“…The study was also limited by relying on respondents’ accurate memory of historical facts about their diagnostic experience. Respondents also included patients who self‐reported having DM without confirmation through medical record review, in contrast to prior studies that required vetting of medical records . Regardless, this study again provides evidence that select groups with DM are capable of filling out a self‐report on the occurrence and relative importance of their clinical symptoms …”

Section: Discussionmentioning

confidence: 88%

“…The diagnostic delay for adults with a confirmed genetic diagnosis has been reported as 7 years for DM1 and 14 years for DM2 . Although different symptoms may lead a patient to seek medical care, the most common symptoms are not always those that have the greatest impact on daily life …”

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confidence: 99%

“…10 Although different symptoms may lead a patient to seek medical care, the most common symptoms are not always those that have the greatest impact on daily life. 1,11 The Christopher Project gathered data directly from individuals and families with DM across North America. The cumulative perspective of patients and family members has the potential to provide novel understanding of DM experiences and unmet needs concerning diagnostic delays, symptoms, healthcare, and other important aspects of daily life.…”

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confidence: 99%

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The myotonic dystrophy experience: a North American cross‐sectional study

2019

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Introduction : Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM. Methods : We conducted a North American, cross‐sectional study of people with DM type‐1, congenital DM, and DM type‐2 and their family members. We sent patients and caregivers separate surveys to identify and quantitate the issues of greatest importance, examine the differences between groups, and identify the most important challenges experienced by this population. Results : 1,180 people with DM and 402 family members/caregivers responded to the surveys. They reported considerable physical and cognitive symptoms, extensive diagnostic delays, and varying clinical phenotypes on the basis of DM type. Discussion : Marked disease burden and numerous unmet needs exist in DM. These needs vary based on DM type and highlight the complex clinical phenotypes of these neurological disorders. Muscle Nerve 59:457–464, 2019

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Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

et al. 2017

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Introduction: The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective and the impact these symptoms have on QoL. Methods: We conducted open‐ended interviews with 21 adult men with genetically confirmed SBMA. Using a qualitative framework technique, we coded and analyzed interviews to identify symptoms and resulting themes. Results: From these interviews, 729 quotations were extracted. We identified 200 SBMA‐specific symptoms and 20 symptomatic themes. Weakness was mentioned by all interviewees. Symptoms within the domain of mental health and the specific themes of emotional issues and psychological impact were also frequently mentioned. Discussion: Numerous symptoms affect QoL for patients with SBMA. We identified previously unrecognized symptoms that are important to address in enhancing clinical care for patients with SBMA and in developing tools to evaluate efficacy in future clinical trials. Muscle Nerve 57: 40–44, 2018

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Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)

Abstract: The lives of patients with DM2 are affected by a variety of symptoms. These symptoms have different levels of significance and prevalence in this population and vary across DM2 subgroups in different demographic categories.

Cited by 54 publications

References 29 publications

Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most

Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most

The myotonic dystrophy experience: a North American cross‐sectional study

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

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