Fig. 1

Photographs of ichthyosis on the (a) posterior neck and (b) right elbow. c Graph depicting progressive deterioration in domains of gross motor function based on the percentage score achieved in the Gross Motor Function Measure (GMFM) and modified Barthel Index. The dashed vertical line indicates the time of initiating oral medication for dystonia and tremor. d Brain MRI performed at 13 years of age showing nonspecific T2 hyper-intensities at bilateral parietal deep white matter