A Greek National Cross-Sectional Study on Myotonic Dystrophies
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
5. Statistical Analysis
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Myotonic Dystrophy Type 1 | Myotonic Dystrophy Type 2 | |
---|---|---|
Total (N (%)) | 434 (100.0) | 127 (100.0) |
Gender (N (%)) | ||
Male | 209 (48.2) | 56 (44.1) |
Female | 225 (51.8) | 71 (55.9) |
Age of onset in years (mean ± SD) | 27.1 ± 14.7 | 44.4 ± 17.0 |
Diagnostic delay in years (Median (IQR; 25–75)) | 8 (2–17.5) | 6 (2–17) |
Parental Origin * | DM1 Premutations 36–50 CTG Repeats | DM1 Protοmutations 51–80 CTG Repeats | Full-Sized DM1 Mutations >80 CTG Repeats |
---|---|---|---|
Paternal | 1 (contraction) | 3 | 118 |
Maternal | 2 | 9 + 1 fetus | 101 |
Unknown | 4 | 13 | 183 |
Total | 7 | 25 | 402 |
Symptom | Myotonic Dystrophy Type 1 N (%) | Myotonic Dystrophy Type 2 N (%) |
---|---|---|
Muscle Weakness | 134 (30.9) | 79 (62.2) |
Myotonia | 135 (31.1) | 12 (9.4) |
Hypotonia | 18 (4.2) | 0 (0.0) |
Cataract | 7 (1.6) | 2 (1.6) |
Dysarthria | 6 (1.4) | 0 (0.0) |
Cardiological complications | 4 (0.9) | 0 (0.0) |
Cognitive difficulties | 4 (0.9) | 0 (0.0) |
Dysphagia | 4(0.9) | 0 (0.0) |
Nasal speech | 3 (0.7) | 0 (0.0) |
Fatigue | 2 (0.5) | 0 (0.0) |
Ptosis | 2 (0.5) | 0 (0.0) |
Pes valgus | 1 (0.2) | 0 (0.0) |
Respiratory complications | 1 (0.2) | 0 (0.0) |
Hypogonadism | 1 (0.2) | 0 (0.0) |
Rhabdomyolysis | 1 (0.2) | 0 (0.0) |
Cognitive impairment | 1 (0.2) | 0 (0.0) |
Myalgia | 0 (0.0) | 7 (5.5) |
Increased CPK | 0 (0.0) | 5 (3.9) |
Somnolence | 0 (0.0) | 2 (1.6) |
Stiffness | 0 (0.0) | 2 (1.6) |
Cramp | 0 (0.0) | 2 (1.6) |
Fatigue | 0 (0.0) | 1 (0.8) |
Unknown | 110 (25.4) | 15 (11.8) |
Total | 434 (100.0) | 127 (100.0) |
Myotonic Dystrophy Type 1 | Myotonic Dystrophy Type 2 | |
---|---|---|
Comorbidity (N (%)) | 434 (100.0) | 127 (100.0) |
Muscle weakness Yes No Unknown | 315 (72.6) 26 (6.0) 93 (21.4) | 96 (75.6) 14 (11.0) 17 (13.4) |
Myotonia Yes No Unknown | 275 (63.4) 25 (5.8) 134 (30.9) | 75 (59.1) 10 (7.9) 42 (33.1) |
Fatigue Yes No Unknown | 68 (15.7) 63 (14.5) 303 (69.8) | 35 (27.6) 16 (12.6) 76 (59.8) |
Cataract Yes No Unknown | 123 (28.3) 124 (28.6) 187 (43.1) | 39 (30.7) 49 (38.6) 39 (30.7) |
Rhythm abnormalities/and or pacemaker Yes No Unknown | 83 (19.1) 129 (29.7) 222 (51.2) | 10 (7.9) 73 (57.5) 44 (34.6) |
Cardiomyopathy Yes No Unknown | 21 (4.8) 128 (29.5) 285 (65.7) | 2 (1.6) 81 (63.8) 44 (34.6) |
Respiratory inv Yes No Unknown | 35 (8.1) 80 (18.4) 319 (73.5) | 1 (0.8) 27 (21.3) 99 (77.9) |
Daytime sleepiness Yes No Unknown | 25 (5.8) 63 (14.5) 346 (79.7) | 7 (5.5) 0 (0.0) 120 (94.5) |
Sleep apnea Yes No Unknown | 26 (6.0) 48 (11.1) 360 (82.9) | 0 (0.0) 12 (9.4) 115 (90.6) |
Ventilation Yes No Unknown | 15 (3.5) 72 (16.6) 332 (76.5) | 0 (0.0) 0 (0.0) 127 (100.0) |
Thyroid dysfunction Yes No Unknown | 47 (10.8) 157 (36.2) 230 (53.0) | 20 (15.7) 57 (44.9) 50 (39.4) |
Glucose intolerance Yes No Unknown | 19 (4.4) 181 (41.7) 234 (53.9) | 19 (15.0) 48 (37.8) 60 (47.2) |
Dysphagia Yes No Unknown | 37 (8.5) 65 (15.0) 332 (76.5) | 0 (0.0) 11 (8.7) 116 (91.3) |
Cancer Yes No Unknown | 4 (0.9) 216 (49.8) 214 (49.3) | 12 (9.4) 5 (3.9) 110 (86.7) |
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Papadimas, G.K.; Papadopoulos, C.; Kekou, K.; Kartanou, C.; Kladi, A.; Nitsa, E.; Sofocleous, C.; Tsanou, E.; Sarmas, I.; Kaninia, S.; et al. A Greek National Cross-Sectional Study on Myotonic Dystrophies. Int. J. Mol. Sci. 2022, 23, 15507. https://doi.org/10.3390/ijms232415507
Papadimas GK, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, Sofocleous C, Tsanou E, Sarmas I, Kaninia S, et al. A Greek National Cross-Sectional Study on Myotonic Dystrophies. International Journal of Molecular Sciences. 2022; 23(24):15507. https://doi.org/10.3390/ijms232415507
Chicago/Turabian StylePapadimas, Georgios K., Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, and et al. 2022. "A Greek National Cross-Sectional Study on Myotonic Dystrophies" International Journal of Molecular Sciences 23, no. 24: 15507. https://doi.org/10.3390/ijms232415507