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Table 1 Clinical manifestations summary

From: Late-onset thymidine kinase 2 deficiency: a review of 18 cases

ID Age At Onset Gender Current Age Clinical Assessments Respiratory Assessments Other manifestations
Ptosis CPEO Facial Weakness Dysphagia Neck flexor weakness Limb Weakness Wheelchair-bound 6MWT (Meters) PEG (AT AGE) Orthopnea BMI Sitting FVC (%) FVC Sitting/Supine (%) Hours on MV (AT AGE)
1 12 F 32 + + Yes +++ + No 530 No No 13.86 46 −8 8 (32)
2 20 F 33 + Yes +++ + No 390 Yes (32) Yes 17.9 26 −22 8–9 (28) Hepatopathy
3 30 F 61 + + Yes ++ + No 386 No Yes 27.12 71 −14 8 (61) PNP-S
4 60 F 73 + + ++ Yes ++ + No 345 No Yes 26 69 NA 8 (73) Hearing loss
PNP-S
5 50 M 50 ++ + No + + No 475 No Yes 27.6 47 NA 12 (50) PNP-S
6 14 F 58 ++ ++ ++ No +++ + No 450 No Yes 24.5 51 −28 8 (56)
7 40 M Death at 68 ++ ++ + Yes +++ ++ Yes NA Yes (68) Yes 23.7 48 NA 10–12 (49) Hearing loss PNP-S
Vocal cord palsy
8 50 F 63 + + ++ No + + No 417 No Yes 28.7 103 −3 PNP-S
9 23 F Death at 40 + Yes +++ ++ Yes NA Yes (39) Yes 15 28 NA 22 (30)
10 14 M Death at 49 + Yes ++ +++ Yes NA Yes (42) Yes 17 32 NA 24 (42)
11 40 M 51 + + No + No 600 No No 26.3 70 −10
12 30 M 60 ++ + Yes NA + No NA No No 23 75 NA Vocal cord palsy
13 48 F Death at 67 + + + No +++ +++ Yes NA No Yes NA 43 NA 12 (58)
14 15 M 26 + + + Yes + + No 413 No No NA 72 −10 Hearing loss
PNP-S
15 12 F 31 + + + No + + No 428 No No NA 75 −12 PNP-S
16 30 F 43 ++ + + No + + No 425 No Yes NA 69 2 8 (43)
17 45 F 51 ++ + ++ Yes + + No NA No No NA NA NA NA
18 25 F 58 ++ ++ ++ Yes ++ ++ No 228 Yes (39) Yes NA 17 NA 11 (59) NA
  1. NA Not available. Ptosis: ++ History of eyelid surgery, + mild, − no ptosis. CPEO chronic progressive external ophthalmoplegia: ++ complete, + partial, − no ocular weakness. Facial weakness: ++ severe, + mild, − no facial weakness. Neck flexor weakness; +++ unable to lift head in supine position, ++ 3 on Medical Research Council (MRC) scale, + 4 on MRC scale, − no neck flexor weakness. Limb weakness: +++ 1–2 on MRC scale, ++ 3 on MRC scale, + 4 on MRC scale, − no weakness. 6MWT six-minute walking test, FVC forced vital capacity, MV Mechanical ventilation, PNP-S sensory polyneuropathy, BMI body mass index