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- Hammarén, Elisabet, et al.
(författare)
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What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1
- 2021
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Ingår i: Journal of Neuromuscular Diseases. - : IOS Press. - 2214-3599 .- 2214-3602. ; 8:6, s. 1007-1016
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Tidskriftsartikel (refereegranskat)abstract
- Background: Individuals with myotonic dystrophy type 1 (DM1) are known to stumble and fall, but knowledge is scarce regarding dynamic stability in this disorder. Objective: To describe disease progress regarding muscle force, dynamic stability and patient reported unintentional falls during a ten-year period, in individuals with DM1. Methods: Quantification of isometric muscle force in four leg muscle groups and assessment of Timed 10-meter-walk in maximum speed (T10max), Timed Up&Go (TUG) and Step test (STEP) were performed at three occasions in a DM1 cohort, together with self-reported falls. Results: Thirty-four people (m/f:11/23, age: 50.2 + /-9.4) participated. The muscle force loss after ten years was large in the distal ankle muscles. A steeper force decrease was seen in most muscles between year five and ten compared to the former five-year period. Males reported more falls than females, 91% vs 35% had fallen last year. A positive correlation, rho = 0.633, p < 0.001, was shown between walking time (T10max) and number of falls. Frequent fallers were only seen among those with slower walk (T10max > 10seconds), and fewer steps in the STEP test (STEP <= 5 steps). Conclusions: A diminishing leg muscle strength and worse dynamic stability were seen in the group, with a steeper decrease in the latter five years. Weak ankle dorsiflexors, a slower walk and difficulties to lift the forefoot were related to frequent falls.
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| 2. |
- Havner, Christina, et al.
(författare)
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Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy
- 2023
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Ingår i: JOURNAL OF NEUROMUSCULAR DISEASES. - 2214-3599 .- 2214-3602. ; 10:5, s. 869-880
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Tidskriftsartikel (refereegranskat)abstract
- Open bite (OB) is a common malocclusion in individuals with orofacial dysfunction and syndromes, especially in neuromuscular diseases. Objectives: The objectives were to explore the prevalence of OB in myotonic dystrophy type 1 (DM1) and Duchenne muscular dystrophy (DMD) and to create and compare orofacial dysfunction profiles. Methods: In this database study, 143 individuals with DM1 and 99 with DMD were included. The Mun-H-Center questionnaire and observation chart were used together with the Nordic Orofacial Test - Screening (NOT-S) to create orofacial dysfunction profiles. OB was categorised as: lateral (LOB); anterior (AOB); severe anterior (AOBS); or both types of anterior OB (AOB(Tot)). Descriptive and multivariate statistics were used to compare the OB prevalence and to study associations with orofacial variables, respectively. Results: There was a statistically significant difference in OB prevalence between the DM1 (37%) and DMD (49%) groups (p = 0.048). LOB was seen in < 1% of DM1 and 18% of DMD. LOB was associated with macroglossia and closed mouth posture, AOB with hypotonic lips, and open mouth posture and AOBS with hypotonic jaw muscles. The orofacial dysfunction profiles showed similar patterns, although the mean NOT-S total scores for DM1 and DMD were 4.2 +/- 2.8 (median 4.0, min-max 1-8) and 2.3 +/- 2.0 (median 2.0, min-max 0-8), respectively. Limitations: The two groups were not age- or gender-matched. Conclusion: OB malocclusion is common in patients with DM1 and DMD and is associated with different types of orofacial dysfunction. This study highlights the need for multi-disciplinary assessments to support tailored treatment strategies that improve or sustain orofacial functions.
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| 3. |
- Lochmueller, Hanns, et al.
(författare)
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The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop : Milan, Italy, January 19-20, 2018
- 2019
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Ingår i: JOURNAL OF NEUROMUSCULAR DISEASES. - : IOS Press. - 2214-3599 .- 2214-3602. ; 6:1, s. 161-172
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Tidskriftsartikel (refereegranskat)abstract
- In the era of patient-centered medicine, shared decision-making (SDM) - in which healthcare professionals and patients exchange information and preferences and jointly reach a decision - has emerged as the gold standard model for the provision of formal healthcare. Indeed, in many geographical settings, patients are frequently invited to participate in choices concerning the design and delivery of their medical management. From a clinical perspective, benefits of this type of patient involvement encompass, for example, enhanced treatment satisfaction, improved medical compliance, better health outcomes, and maintained or promoted quality of life. Yet, although the theory and enactment of SDM in healthcare are well-described in the literature [1-3], comparatively less attention has been devoted to contextualizing questions relating to if, when, and how to include patients in decisions within medical research. In this context, patient involvement would be expected to be potentially relevant for and applicable to a wide range of activities and processes, from the identification of research priorities and development of grant applications, to the design of patient information and consent procedures, formulation of interventions, identification and recruitment of study sample populations, feasibility of a clinical trial, identification, selection, and specification of endpoints and outcomes in clinical trials and observational studies, data collection and analysis, and dissemination of results. To this end, 45 clinicians, healthcare professionals, researchers, patients, caregivers, and representatives from regulatory authorities and pharmaceutical companies from 15 different countries met to discuss the level of involvement of patients with neuromuscular diseases, specifically in the following settings of medical research for neuromuscular diseases: i) registries and biobanks; ii) clinical trials; and iii) regulatory processes. In this report, we present summaries of the talks that were given during the workshop, as well as discussion outcomes from the three topic areas listed above.
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| 4. |
- O'Connor, Laura, et al.
(författare)
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Pattern of Habitual Physical Exercise in Myasthenia Gravis Patients
- 2019
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Ingår i: JOURNAL OF NEUROMUSCULAR DISEASES. - : IOS Press. - 2214-3599 .- 2214-3602. ; 6:1, s. 85-91
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Tidskriftsartikel (refereegranskat)abstract
- Background: Notwithstanding the amount of deliberate exercise, the daily patterns of active versus sedentary behavior have a major influence on health outcomes [1]. Patterns of habitual active and sedentary behavior in Myasthenia Gravis (MG) patients, as well as their possible relations to disease activity, are not known. Objective: To evaluate baseline patterns of physical and sedentary behavior in MG patients. Methods: Activity patterns of twenty-seven MG patients were assessed by a Dynaport Move Monitor (McRoberts) accelerometer, worn for seven consecutive days. The amount of time spent in moderate and vigorous intensity activities, physical activity level (PAL), number of steps/day and sedentary time were assessed and correlations to disease severity were analyzed. The results were compared to general recommendations and published data of healthy individuals and to data of patients with the chronic disorders chronic obstructive pulmonary disease (COPD) and mitochondrial myopathy. Results: MG patients had sedentary behavior during 78 +/- 7% of the day. There was neither a correlation between disease severity and number of steps/day (R = -0.15;p = 0.56) nor between disease severity and PAL (R = 0.33;p = 0.26). Nevertheless, the MG patients met the recommendations of daily deliberate exercise (181 +/- 158 MET min/day). PAL was lower in MG patients (1.5 f 0.138) than in healthy individuals (1.67 +/- 0.145, p < 0.00001). Conclusion: Although a majority of MG patients meet the recommendations of deliberate exercise, their baseline physical activity levels are dominated by sedentary behavior. In comparison with a healthy population, MG patients are less physically active, but the reason for this remains unclear with no correlations between disease severity and physical activity patterns.
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| 5. |
- Strandberg, Kristin, et al.
(författare)
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Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy
- 2020
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Ingår i: Journal of Neuromuscular Diseases. - : IOS Press. - 2214-3599 .- 2214-3602. ; 7:3, s. 231-246
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Tidskriftsartikel (refereegranskat)abstract
- Background: Duchenne Muscular Dystrophy is a severe, incurable disorder caused by mutations in the dystrophin gene. The disease is characterized by decreased muscle function, impaired muscle regeneration and increased inflammation. In a clinical context, muscle deterioration, is evaluated using physical tests and analysis of muscle biopsies, which fail to accurately monitor the disease progression. Objectives: This study aims to confirm and asses the value of blood protein biomarkers as disease progression markers using one of the largest longitudinal collection of samples. Methods: A total of 560 samples, both serum and plasma, collected at three clinical sites are analyzed using a suspension bead array platform to assess 118 proteins targeted by 250 antibodies in microliter amount of samples. Results: Nine proteins are confirmed as disease progression biomarkers in both plasma and serum. Abundance of these biomarkers decreases as the disease progresses but follows different trajectories. While carbonic anhydrase 3, microtubule associated protein 4 and collagen type I alpha 1 chain decline rather constantly over time, myosin light chain 3, electron transfer flavoprotein A, troponin T, malate dehydrogenase 2, lactate dehydrogenase B and nestin plateaus in early teens. Electron transfer flavoprotein A, correlates with the outcome of 6-minutes-walking-test whereas malate dehydrogenase 2 together with myosin light chain 3, carbonic anhydrase 3 and nestin correlate with respiratory capacity. Conclusions: Nine biomarkers have been identified that correlate with disease milestones, functional tests and respiratory capacity. Together these biomarkers recapitulate different stages of the disorder that, if validated can improve disease progression monitoring.
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