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This cross-sectional observational study aims to determine the frequency of falls in patients with myotonic dystrophy type 1 and to identify factors affecting dynamic balance. The study will also evaluate fear of falling, selected lower extremity muscle strength, and the relationship between muscle strength and fall frequency. The findings may contribute to a better understanding of fall risk and balance impairment in patients with myotonic dystrophy type 1.
Myotonic dystrophy type 1 is a multisystem neuromuscular disorder characterized by myotonia, progressive muscle weakness, and functional limitations. Distal muscle weakness, impaired postural control, and gait dysfunction may increase the risk of falls and negatively affect daily activities and quality of life. Although falls and balance impairment are clinically important in patients with myotonic dystrophy type 1, data on fall frequency and factors affecting dynamic balance remain limited.
This single-center, hospital-based, cross-sectional observational study will be conducted in patients with myotonic dystrophy type 1 who are followed at the Neuromuscular Diseases Center of Antalya Training and Research Hospital. The study aims to determine fall frequency and to investigate factors affecting dynamic balance. Fear of falling, lower extremity muscle strength, and dynamic balance performance will be assessed, and the relationship between muscle strength and fall frequency will be examined. The results are expected to improve the understanding of fall-related impairments in myotonic dystrophy type 1 and support more comprehensive clinical assessment and rehabilitation planning.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Myotonic Dystrophy Type 1 Group | Patients with myotonic dystrophy type 1 who are evaluated for fall frequency, dynamic balance, fear of falling, and lower extremity muscle strength. |
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| Measure | Description | Time Frame |
|---|---|---|
| Fall frequency | Fall frequency will be assessed using semi-structured questions regarding the number of falls experienced by patients with myotonic dystrophy type 1. | At baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Fear of falling | Fear of falling will be assessed using semi-structured questions regarding the fear of falling experienced by patients with myotonic dystrophy type 1. | At baseline |
| Muscular Impairment Rating Scale score |
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Inclusion Criteria:
Exclusion Criteria:
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The study population will consist of adult patients with myotonic dystrophy type 1 who are followed at the Neuromuscular Diseases Center of Antalya Training and Research Hospital. Participants who meet the predefined eligibility criteria and are able to complete the balance, mobility, and muscle strength assessments will be included.
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| Name | Affiliation | Role |
|---|---|---|
| Hanife Hale Hekim, MD | Antalya Training and Research Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Antalya Training and Research Hospital | Antalya | Antalya | 07100 | Turkey (Türkiye) |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31540818 | Background | Berends J, Tieleman AA, Horlings CGC, Smulders FHP, Voermans NC, van Engelen BGM, Raaphorst J. High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study. Neuromuscul Disord. 2019 Oct;29(10):758-765. doi: 10.1016/j.nmd.2019.08.012. Epub 2019 Aug 28. | |
| 24412157 | Background |
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The investigators have not yet made a final decision regarding the sharing of individual participant data. Any future data sharing will be considered in accordance with institutional policies, ethics committee approval, and participant confidentiality requirements.
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| ID | Term |
|---|---|
| D009223 | Myotonic Dystrophy |
| D009468 | Neuromuscular Diseases |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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Disease-related muscle involvement severity will be assessed using the Muscular Impairment Rating Scale (MIRS).
| At baseline |
| Dynamic balance performance by Timed Up and Go test | Dynamic balance performance will be assessed using the Timed Up and Go (TUG) test. | At baseline |
| Walking performance by 10-Meter Walk Test at maximum safe speed | Walking performance and dynamic mobility will be assessed using the 10-Meter Walk Test at maximum safe speed. | At baseline |
| Isometric muscle strength | Isometric muscle strength of selected muscle groups will be measured to evaluate the relationship between muscle strength and fall frequency. | At baseline |
| Hand grip strength | Hand grip strength will be measured using a hand grip strength assessment. | At baseline |
| Balance performance by Berg Balance Scale | Balance performance will be evaluated using the Berg Balance Scale. | At baseline |
| Functional Ambulation Scale score | Ambulation level will be recorded using the Functional Ambulation Scale (FAS). | At baseline |
| Hammaren E, Kjellby-Wendt G, Kowalski J, Lindberg C. Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - a cross-sectional study - including reference values of Timed Up & Go, 10m walk and step test. Neuromuscul Disord. 2014 Mar;24(3):207-15. doi: 10.1016/j.nmd.2013.12.003. Epub 2013 Dec 15. |
| 29361394 | Background | Jimenez-Moreno AC, Raaphorst J, Babacic H, Wood L, van Engelen B, Lochmuller H, Schoser B, Wenninger S. Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. Neuromuscul Disord. 2018 Mar;28(3):229-235. doi: 10.1016/j.nmd.2017.12.010. Epub 2017 Dec 27. |
| 16199443 | Background | Wiles CM, Busse ME, Sampson CM, Rogers MT, Fenton-May J, van Deursen R. Falls and stumbles in myotonic dystrophy. J Neurol Neurosurg Psychiatry. 2006 Mar;77(3):393-6. doi: 10.1136/jnnp.2005.066258. Epub 2005 Sep 30. |
| 17097113 | Background | Pieterse AJ, Luttikhold TB, de Laat K, Bloem BR, van Engelen BG, Munneke M. Falls in patients with neuromuscular disorders. J Neurol Sci. 2006 Dec 21;251(1-2):87-90. doi: 10.1016/j.jns.2006.09.008. Epub 2006 Nov 9. |
| 31190764 | Background | Schoene D, Heller C, Aung YN, Sieber CC, Kemmler W, Freiberger E. A systematic review on the influence of fear of falling on quality of life in older people: is there a role for falls? Clin Interv Aging. 2019 Apr 24;14:701-719. doi: 10.2147/CIA.S197857. eCollection 2019. |
| 26194491 | Background | Trombetti A, Reid KF, Hars M, Herrmann FR, Pasha E, Phillips EM, Fielding RA. Age-associated declines in muscle mass, strength, power, and physical performance: impact on fear of falling and quality of life. Osteoporos Int. 2016 Feb;27(2):463-71. doi: 10.1007/s00198-015-3236-5. Epub 2015 Jul 21. |
| 29260836 | Background | Kierkegaard M, Petitclerc E, Hebert LJ, Mathieu J, Gagnon C. Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1. J Rehabil Med. 2018 Feb 28;50(3):269-277. doi: 10.2340/16501977-2304. |
| 34151851 | Background | Hammaren E, Kollen L. What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1. J Neuromuscul Dis. 2021;8(6):1007-1016. doi: 10.3233/JND-200521. |
| 25475393 | Background | Hammaren E, Kjellby-Wendt G, Lindberg C. Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: a five-year prospective cohort study. Neuromuscul Disord. 2015 Feb;25(2):141-8. doi: 10.1016/j.nmd.2014.11.004. Epub 2014 Nov 13. |
| 27234310 | Background | Bachasson D, Moraux A, Ollivier G, Decostre V, Ledoux I, Gidaro T, Servais L, Behin A, Stojkovic T, Hebert LJ, Puymirat J, Eymard B, Bassez G, Hogrel JY. Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1. Neuromuscul Disord. 2016 Jul;26(7):428-35. doi: 10.1016/j.nmd.2016.05.009. Epub 2016 May 12. |
| D020967 | Myotonic Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |