Table 1.
Clinical Characteristics.
| Case | Mutation | Predominant phenotype | Sex | Age at examination (years) | Duration of neuropathy (years) | Initial symptom of neuropathy | Modified Rankin scale* | Cardiac findings | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTR** (%) | EF*** (%) | IVS*** thickness (mm) | E/e’ | Plasma BNP (pg/mL) | ||||||||
| 1 | Val94Gly | Neuropathy | F | 51 | 2 | P in UE | 2 | 51 | 61 | 11.6 | 11.9 | 56.1 |
| 2 | Val71Ala | Neuropathy | F | 35 | 4 | P in LE | 4 | 38 | 74 | 7.5 | ND | ND |
| 3 | Pro24Ser | Neuropathy | M | 75 | 5 | P in LE | 2 | 44 | 62 | 13.1 | 14.6 | 56.7 |
| 4 | Thr60Ala | Cardiomyopathy | M | 64 | 1 | P in LE | 1 | 52 | 39 | 15.2 | 21.1 | 89.2**** |
| 5 | Tyr114Cys | Oculolepto-meningeal | M | 43 | 4 | P in LE | 3 | 36 | 66 | 9.5 | 9.9 | 55.8 |
CTR: cardiothoracic ratio, EF: ejection fraction, IVS: interventricular septum, LE: lower extremities, ND: not determined, P: paraesthesia or pain, UE: upper extremities
*According to a previous report (15): 0=no symptoms at all; 1=no significant disability despite the presence of symptoms, demonstrated as the ability to perform all typical duties and activities; 2=slight disability, demonstrated as the inability to perform all previous activities but the ability to perform self-care without assistance; 3=moderate disability, demonstrated as requiring some help but being able to walk without assistance; 4=moderately severe disability, demonstrated as the inability to walk without assistance and to attend to bodily needs without assistance; and 5=severe disability, demonstrated as being bedridden and incontinent and requiring constant nursing care and attention.
**Assessed by chest X-ray
***Assessed by two-dimensional and M-mode echocardiography
****Diuretic agents were administered.
The normal values for CTR, EF, IVS thickness, E/e’ and plasma BNP are ≤50%, >60%, ≤ 11 mm, ≤8, and ≤ 20 pg/mL, respectively.