PMC full text: | Published online 2024 Nov 1. doi: 10.1186/s13023-024-03359-8
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21 Signs and Symptoms a | n | % |
---|---|---|
Myotonia | 180 | 78.9 |
Facial Weakness/Trouble Smiling | 146 | 64.0 |
Distal Weakness | 142 | 62.3 |
Hand Weakness | 136 | 59.6 |
Proximal Weakness | 100 | 43.9 |
Trouble Walking / Running / Jumping | 99 | 43.4 |
Ptosis | 98 | 43.0 |
Dysarthria | 95 | 41.7 |
Hand Stiffness | 90 | 39.5 |
Cataracts Before 50 (for all individuals, n=228) b | 89 | 39.0 |
Dysphagia | 89 | 39.0 |
Chronic Fatigue | 84 | 36.8 |
Daytime Sleepiness c | 81 | 35.5 |
Gastrointestinal Distress c | 77 | 33.8 |
Sleep Apnea | 52 | 22.8 |
Myalgia c | 46 | 20.2 |
Trouble Climbing Up & Down Stairs | 34 | 14.9 |
Jaw Stiffness | 31 | 13.6 |
Cognitive Impairment | 15 | 6.6 |
Respiratory Failure / Insufficiency | <11 | NR |
Developmental Delays c | <11 | NR |
Notea: the number of patients reporting a symptom is not mutually exclusive. b: Among 69 individuals who are ≥50 years old, 31 (44.9%) reported having Cataracts Before 50 years old. c: This term includes a range of signs and symptoms, please refer to the Supplementary Table 2 for detailed information. In factor analysis, only signs and symptoms with over 10 patients were included. NR=no report for signs and symptoms among less than 11 patients