. 2017 May 10;6(6):384–394. doi: 10.1530/EC-17-0042
This work is licensed under a Table 1.
Clinical characteristics of the patients with Pompe disease.
| Patient no. (gender) | Age (years) | Onset of weakness (years) | ERT | Mutation | 6-min walk test (m) | MRC score (thigh/calf) | Atrophy (thighs) | FVC sitting/supine (L) | Medications |
|---|---|---|---|---|---|---|---|---|---|
| 1. F Danish | 38 | 25 | No | c.-32-13T > Ac.307T > G; p.C103G | 531 | 4/5 | Yes | 2.8/2.2 | None |
| 2. M Danish | 39 | 20 | No | c.-32-13T > A c.2331+2T > G | 441 | 4/5 | Yes | 4.1/3.7 | None |
| 3. F Swedish | 64 | 48 | No | c.2560C > TIVS1-13T > G | 369 | 4/5 | Yes | 2.8/2.7 | ZopiklonKetoprofen |
| 4. M French | 65 | 55 | Yes | c.-32-13T > Ac.3G > A | 540 | 5/5 | No | 2.7/1.8 | StatinAllopurinol |
| 5. F French | 30 | 27 | Yes | c.1655T > Cc.1688A > T | 488 | 4/5 | No | 2.4/2.2 | None |
| 6. F French | 26 | 21 | Yes | C.-32-13T > AC.525delT | 496 | 3/5 | Yes | 2.2/1.9 | Perindopril |
| 7. M Danish | 20 | 1 | Yes | c.[2228A > G+2237G > C] IVS1-13T > G | ND | 4/5 | No | 5.6/5.3 | None |
| Mean patients (s.d.) | 40.3 (17.8) | 28.1 (18.2) | 4 out of 7 | NA | 478 (63.8) | 4.0 (0.6)/5.0 (0.0) | 4 out of 7 | 3.2 (1.2)/2.8 (1.3) | NA |
| Mean controls (s.d.) | 39.9 (16.2) | NA | NA | NA | ND | NA | No | ND | One subject took oral contraceptive pills |
| P value | 0.902 |
Patient nationality is given in the table. Control subjects were Danish. None of the patients had cardiac involvement, which was evaluated by ECG and echocardiography in all patients. Mutation analysis was performed in the GAA gene (HUGO gene nomenclature committee # 4065) (34).
ERT, enzyme replacement therapy with Myozyme; F, female; FVC, forced vital capacity; M, male; MRC, Medical Research Council Scale for strength, 6-point scale (5 = normal strength, 4 = reduced strength, moves joint against resistance, 3 moves joint against gravity); NA, not applicable; ND, not done/no data; s.d., standard deviation.