Phenotypic variability and molecular genetics in proximal myotonic myopathy

Papadimas, George K.; Kekou, Kyriaki; Papadopoulos, Constantinos; Kararizou, Evangelia; Kanavakis, Emmanuel; Manta, Panagiota

doi:10.1002/mus.24440

Cited by 9 publications

(6 citation statements)

References 19 publications

(43 reference statements)

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“…Our study has provided an extensive assessment for risks and age‐related frequency of important disease milestones in DM1 and DM2. Our finding that patients with DM1 are at greater risk to reach milestone events and at younger ages generally agrees with previous cross‐sectional studies 2,3,9,10 . Motor milestone events, such as cane and ankle braces, are reached more frequently and earlier in DM1, which is expected in a disease that preferentially affects distal muscles first.…”

Section: Discussionsupporting

confidence: 91%

“…Our finding that patients with DM1 are at greater risk to reach milestone events and at younger ages generally agrees with previous cross-sectional studies. 2,3,9,10 Motor milestone events, such as cane and ankle braces, are reached more frequently and earlier in DM1, which is expected in a disease that preferentially affects distal muscles first. However, it is important to note that the impact of DM2 at older ages is still very considerable, with a high risk for the need of a walker or wheelchair, and a substantial risk of disease-related disability before 60 years of age.…”

Section: Discussionmentioning

confidence: 99%

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Milestones of progression in myotonic dystrophy type 1 and type 2

et al. 2022

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Introduction/Aims: Disease progression in myotonic dystrophy (DM) is marked by milestone events when functional thresholds are crossed. DM type 2 (DM2) is considered less severe than DM type 1 (DM1), but it is unknown whether this applies uniformly to all features. We compared the age-dependent risk for milestone events in DM1 and DM2 and tested for associations with age of onset and sex.Methods: We studied a large cohort of adult participants in a national registry of DM1 and DM2. Using annual surveys from participants, we ascertained milestone events for motor involvement (use of cane, walker, ankle brace, wheelchair, or ventilatory device), systemic involvement (diabetes, pacemaker, cancer), loss of employment due to DM, and death.Results: Mean follow-up of registry participants (929 DM1 and 222 DM2 patients) was 7 years. Disability and motor milestones occurred at earlier ages in DM1 than in DM2. In contrast, the risk of diabetes was higher and tended to occur earlier in DM2 (hazard ratio [HR], 0.56; P ≤ .001). In DM1, the milestone events tended to occur earlier, and life expectancy was reduced, when symptoms began at younger ages. In DM1, men were at greater risk for disability (HR, 1.34; P ≤ .01), use of ankle braces (HR, 1.41; P = .02), and diabetes (HR, 2.2; P ≤ .0001), whereas women were at greater risk for needing walkers (HR, 0.68; P = .001) or malignancy (HR, 0.66; P ≤ .01).Discussion: Milestone events recorded through registries can be used to assess longterm impact of DM in large cohorts. Except for diabetes, the age-related risk of milestone events is greater in DM1 than in DM2.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Milestones of progression in myotonic dystrophy type 1 and type 2

et al. 2022

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“…(For a comprehensive review of social cognition domains and assessment tools for clinical and research investigation and associated impairments in neurodegenerative conditions, please see Christidi et al [2018].) The multimodal longitudinal assessment of individuals with DM2 would also allow the characterization of propagation patterns radiologically and progressive neuropsychological changes, which so far have not been examined in Greek individuals with DM2 (Karatzikou et al, 2018; Papadimas et al, 2015; Papadopoulos et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

“…Laboratory tests were also carried out. Peripheral blood was obtained from all of the individuals who had been referred for genetic testing after informed consent, and genetic analysis was performed as described previously (Papadimas et al, 2015). The HC were recruited by word of mouth.…”

Section: Methodsmentioning

confidence: 99%

“…More broadly, the characterization of DM2-associated cognitive profiles may have implications for guideline development, planning of multidisciplinary interventions, and generation of best practice recommendations. Previous Greek cohort studies (Papadimas et al, 2015; Papadopoulos et al, 2018) and case reports (Karatzikou et al, 2018) have not characterized DM2-associated cognitive functions or GM and WM degeneration.…”

mentioning

confidence: 97%

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Executive Dysfunction, Social Cognition Impairment, and Gray Matter Pathology in Myotonic Dystrophy Type 2: A Pilot Study

Theodosiou

Christidi

Xirou

et al. 2022

Cognitive and Behavioral Neurology

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Background: In contrast to myotonic dystrophy type 1, the cognitive and radiologic profile of myotonic dystrophy type 2 (DM2) is relatively poorly characterized. Objective: To conduct a pilot study to systematically evaluate cognitive and radiologic features in a cohort of Greek individuals with DM2. Method: Eleven genetically confirmed individuals with DM2 and 26 age- and education-matched healthy controls were administered the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS) to screen for impairment in multiple cognitive domains. MRI data were evaluated by morphometric analyses to identify disease-specific gray and white matter alterations. The following statistical thresholds were used for cognitive comparisons: P FDR < 0.05 and Bayes factor (BF10) >10. Results: The DM2 group exhibited cognitive impairment (ECAS Total score; P FDR = 0.001; BF10 = 108.887), which was dominated by executive impairment (P FDR = 0.003; BF10 = 25.330). A trend toward verbal fluency impairment was also identified. No significant impairments in memory, language, or visuospatial function were captured. The analysis of subscores revealed severe impairments in social cognition and alternation. Voxel-based morphometry identified widespread frontal, occipital, and subcortical gray matter atrophy, including the left superior medial frontal gyrus, right medial orbitofrontal gyrus, right operculum, right precuneus, bilateral fusiform gyri, and bilateral thalami. Conclusion: DM2 may be associated with multifocal cortical and thalamic atrophy, which is likely to underpin the range of cognitive manifestations mostly characterized by executive impairment and specifically by impaired social cognition.

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Exercise and Muscle Atrophy

2020

Physical Exercise for Human Health

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Phenotypic variability and molecular genetics in proximal myotonic myopathy

Cited by 9 publications

References 19 publications

Milestones of progression in myotonic dystrophy type 1 and type 2

Milestones of progression in myotonic dystrophy type 1 and type 2

Executive Dysfunction, Social Cognition Impairment, and Gray Matter Pathology in Myotonic Dystrophy Type 2: A Pilot Study

Exercise and Muscle Atrophy

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