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

Abstract

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

Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy

“…They tend to be engaged with Myotonic, receive the monthly newsletter, sometimes join virtual or onsite support groups, and follow news about the disease. That said, the overall description of CNS symptom burden aligns closely with other published studies, notably the survey-based Christopher Project [6], and the Consensus-based Care Recommendations published by Myotonic [for Adults with Myotonic Dystrophy Type1 [7], adults with myotonic dystrophy Type 2 [8], and patients with childhoodonset myotonic dystrophy type 1 [9], adding validity to the experiences described below. Input from the patients and caregivers from this session is summarized below.…”

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

“…Located on chromosome 19q13.3 [6,7], an excessive repetition in the ADN of cytosine-thymine-guanine (CTG) leads to a progressive cell malfunctioning in multiple organs due to RNA toxicity [8]. Considered as a complex multisystemic disease and often compared to a premature aging process [9][10][11], DM1 implies heterogeneous symptoms and impairments that greatly varied in terms of presentation and progression [1,12]. While one individual may experience progressive distal to proximal weakness, fatigue, excessive daytime sleepiness, myotonia (i.e., delay in relaxing muscle after voluntary contraction), pain [13], apathy, depression, and personality disorder [14], another may have, in addition to weakness, the presence of cataracts, cardiac and respiratory impairments, digestive and endocrine deficits [15] and mild cognitive impairments (e.g., attention, visuospatial and constructional disabilities and dysexecutive syndrome) [16].…”

“…Adults with DM1 often live in a deprived social environment with lower income, education, and support [17,18], including limited access to social and medical services [19,20]. Due to the dominant inheritance, the social environment of adults with DM1 often implies low social support from family members [17] and a high caregiver burden as he/she often has to look after more than one adult with DM1 [12]. The presence of these personal and environmental factors is likely to influence, even on the long run, several aspects of the life of individuals with DM1 including participation restriction in daily and social activities [21].…”

“…Long-term monitoring should be a determinant part of rehabilitation services for adults with DM1 [28]. Follow-up and referrals have, however, been often reported as fragmented or happening too late in the process [12,[30][31][32]. In addition, unmet needs for social care and rehabilitation services are reported in a large proportion of adults with DM1 (68-82%) [33] and their relatives (19-31%) [12].…”

Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

“…We conducted an online survey that included retrospective data and cross-sectional data on current symptoms. In contrast to other multicentre-based registries [21], we only focussed on the patient's description of their symptom onset, sociodemographic data, and contemporary symptoms and did not include clinical objective data like medical reports (e.g., genetic reports on repeat length) or physical examination results. Even if we are aware that online surveys do not replace clinical visits, they might be a valuable additional e-health tool to reduce the number of follow-up examinations and the patient's efforts for sometimes long travels.…”