Table 1 Initial signs and symptoms of disease
Initial Signs and Symptoms | All Ages n/N (%) | Age of Onset | |
|---|---|---|---|
≤12 Months n/N (%) | > 12 Months n/N (%) | ||
Loss of developmental milestones | 13/32 (41) | 12/23 (52) | 1/9 (11) |
Irritability | 12/32 (38) | 8/23 (35) | 4/9 (44) |
Abnormal gait | 7/32 (22) | 1/23 (4) | 6/9 (67) |
Motor delay | 5/32 (16) | 5/23 (22) | 0/9 (0) |
Abnormal muscle tone | 4/32 (13) | 4/23 (17) | 0/9 (0) |
Slurred speech | 3/32 (9) | 1/23 (4) | 2/9 (22) |
Loss of vision | 2/32 (6) | 0/23 (0) | 2/9 (22) |
Abnormal arm movements | 1/32 (3) | 1/23 (4) | 0/9 (0) |
Macrocephaly | 1/32 (3) | 1/23 (4) | 0/9 (0) |