| 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 |
