Table 1.
Clinical manifestations summary
| 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 |
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