| Individual ID |
00000783 |
| Associated disease |
- |
| Phenotype details |
He was generally thin and tall. Height: 172cm, Weight:41kg. Upper limb power was Medical Research Council grade 5 in both proximally and distally while lower limbs were grade 4 proximally and grade 5 distally. He had limitation of neck and back flexion and extension but no lordosis or kyphoscoliosis. Gowers sign was negative but Beevor sign was positive. Anterior-Posterior and lateral X-ray of the spine showing a straight spine with only minimal scoliosis and no kyphosis or lordosis. MRI sagittal view of the thoracolumbar spine T1-weighted and Short Tau Inversion Recovery (STIR) sequences showed relatively preserved paravertebral muscles without fat infiltration or inflammation |
| Inheritance |
- |
| Owner name |
Nur Aisyah Athirah |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Nur Aisyah Athirah |
| Date created |
2021-07-14 10:01:59 +08:00 (CST) |
| Date last edited |
2021-08-01 13:25:37 +08:00 (CST) |
