TABLE 3.
Additional clinical observations after ERT interruption, grouped by impacted area
| Grouping per impact | Parameter described | Patient # | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #1 | #2 | #3 | #4 | #5 | #6 | #7 | #8 | #9 | #10 | #11 | #12 | #13 | #14 | #15 | #16 | #17 | #18 | ||
| Joint and skeletal | Progressive quadriparesis | x | |||||||||||||||||
| Genu valgum | x | ||||||||||||||||||
| Flattening of vertebrae | x | ||||||||||||||||||
| Thoracic kyphosis | x | ||||||||||||||||||
| Severe scoliosis | x | ||||||||||||||||||
| Visual impairment | Hypermetropia | x | x | x | |||||||||||||||
| Astigmatism | x | x | x | ||||||||||||||||
| Cardiac impact | Heart rhythm disturbance | x | |||||||||||||||||
| Distended abdomen | Distended abdomen | x | x | ||||||||||||||||
| Mobility | Difficult to walk | x | x | x | x | ||||||||||||||
| Otology—Hearing loss | Hearing loss | x | x | x | x | x | x | ||||||||||||
| Rhinology and laryngology | Grade II tonsils, elongated uvula, granulomatous pharynx, lingual tonsil hypertrophy | x | |||||||||||||||||