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Table 5 Caregiver-reported initial symptoms of MLD individuals by onset type

From: Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy

Initial symptoms (ordered by total)

Overall (n = 32*)

Late infantile (n = 20)

Juvenile (n = 11)

By early signs

 Coordination difficulties, n (%)

24 (75.0)

18 (90.0)

6 (54.5)

 Clonus/Tremor, n (%)

9 (28.1)

5 (25.0)

3 (27.3)

 Comprehension challenges, n (%)

9 (28.1)

2 (10.0)

6 (54.5)

 Change in Behavior/Personality, n (%)

6 (18.8)

1 (5.0)

5 (45.5)

 Vision Issues, n (%)

3 (9.4)

3 (15.0)

0 (0.0)

By symptom type

 Physical symptoms (coordination difficulties, clonus/tremor, vision issues)

28 (87.5)

19 (95.0)

8 (72.7)

 Cognitive symptoms (comprehension challenges, change in behavior/personality)

10 (31.3)

2 (10.0)

7 (63.6)

By developmental signs

 Development delays

7 (21.9)

5 (25.0)

1 (9.1)

 Developmental regression

11 (34.4)

5 (25.0)

6 (54.5)

 Developmental stagnation

7 (21.9)

6 (30.0)

1 (9.1)

  1. Initial symptoms were grouped into buckets based on similarities in response. There is overlap amongst respondents within each symptom group as many respondents listed more than one initial symptom
  2. *One respondent is not accounted for in onset type breakout due to reportedly being a borderline late infantile/juvenile case