Metachromatic Leukodystrophy (MLD) is a rare neurodegenerative disorder. It causes demyelination of the brain, causing motor and developmental regression, seizures, deafness, blindness, dementia, and can lead to death. We extracted data from evaluations and reports of 71 MLD patients who were evaluated at the Program for the Study of Neurodevelopment in Rare Disorders between 2000 and 2012 -- focusing specifically on adaptive behavior and motor abilities.

1. Metachromatic
Leukodystrophy
Natural History
Haadi Ali
Rachel Nepomuceno
http://mymldface.blogspot.com/2012/05/memorial-day-tomorrow-is-promised-to-no.html

2. Background
What is MLD?
Rare neurodegenerative disorder
1 in 40,000 to 1 in 160,000
Genetic mutation causes deficiency
of enzyme arylsulfatase
Autosomal recessive (both parents
pass on mutated gene)
Toxic build up of sulfatides
Demyelination of the brain

3. Background
Symptoms
Motor and developmental
regression
Seizures, deafness, blindness, dem
entia
Shorter life span, death
Classifications
Late-infantile
Juvenile
Adult
Ashley, a girl with MLD

4. Methods
Extracted data from evaluations and reports of
71 MLD patients who were evaluated at the
Program for the Study of Neurodevelopment in
Rare Disorders between 2000 and 2012
47 Late-infantile
23 Juvenile
1 Adult
31 received Umbilical Cord Stem Cell
Transplantation
Dr. Maria Escolar
Director of NDRD

5. Adaptive Behavior Variables
Potty Training
Can go to the toilet
without assistance
Is not potty trained
Bowel Control
Can control bowels
Cannot control bowel
Dress Independently
Can independently dress
themselves
Needs assistance for
dressing
Eating
Can Eat Independently
Cannot Eat Independently

6. 120
Late-infantile Potty Training
100
100
100
100
96
92
Percent
80
60
40
20
8
0
0
Age
0-1
1-2
2-3
1
3-4
Not Potty Trained
4+
0
1
0-1
1-2
2-3
2
Potty Trained
4
3-4
4+

7. Late-infantile Dressing
120
100
100
100
100
100
100
Percent
80
0-1
60
1-2
2-3
3-4
40
4+
20
0
0
0
0
0
0
Age
1
0-1
1-2
2-3
3-4
Cannot Dress Themselves
2
4+
0-1
1-2
2-3
3-4
Can Dress Themselves
4+

8. 120
Late-infantile Bowel Control
100
100
100
100
100
97
Percent
80
60
0-1
1-2
2-3
3-4
40
4+
20
0
0
0
3
0
0
Age
1
0-1
1-2
2-3
2
3-4
Cannot Control Bowels
4+
0-1
1-2
2-3
3-4
Can Control Bowels
4+

9. 120
Late-infantile Eating
100
100
100
100
100
91
Percent
80
60
0-1
1-2
2-3
3-4
40
4+
20
9
0
0
0
0
0
Age
1
0-1
1-2
2-3
Cannot Eat without Assistance
2
3-4
4+
0-1
1-2
2-3
3-4
Can Eat Without Assistance
4+

10. Juvenile Potty Training
120
100
100
1-2
80
75
Percent
71
4-5
6-7
60
7-8
60
50
50
10+
40
40
29
25
20
0
0
Age
1-2
4-5
1
6-7
7-8
Not Potty Trained
10+
1-2
4-5 2
6-7
Potty Trained
7-8
10+

11. Juvenile Bowel Control
120
100
100
80
72
Percent
67
67
1-2
4-5
60
50
6-7
50
7-8
10+
40
33
33
29
20
0
0
1
Age
1-2
4-5
6-7
2
7-8
Cannot Control Bowels
10+
1-2
4-5
6-7
Can Control Bowels
7-8
10+

12. 120
Juvenile Dressing
100
100
86
80
75
Percent
67
1-2
60
50
4-5
50
6-7
6-7
40
10+
33
25
20
14
0
0
Age
1
1-2
4-5
6-7
2
7-8
Cannot Dress Themselves
10+
1-2
4-5
6-7
7-8
Can Dress Themselves
10+

13. Juvenile Eating
120
100
100
100
100
89
Percent
80
1-2
57
60
4-5
6-7
43
7-8
40
10+
20
11
0
0
0
0
Age
1
1-2
4-5
6-7
2
7-8
Cannot Eat Without Assistance
10+
1-2
4-5
6-7
7-8
Can Eat Without Assistance
10+

14. Motor Variables
Sitting
can sit unassisted
sitting with assistance
cannot sit with assistance
Self mobility
walks unassisted
walks with assistance
wheelchair
no self mobility
Walking difficulty
none
mild
moderate
severe

15. 90
Late-infantile Sitting
80
80
75
70
62
60
Percent
60
50
46
43
40
30
25
24
20
20
20
14
11
10
13
7
0
0
Age 0-1
1-2
2-3
1
Can Sit
3-4
4+
0-1
1-2
2-3
2
3-4
Sits With Assistance
4+
0-1
1-2
2-3
3
3-4
Cannot Sit
4+

16. 80
75
Late-infantile Walking
70
60
60
52
Percent
50
50
50
47
40
40
30
25
24
21
20
19
16
13
10
5
0
3
0
0
2
0
0
Age 0-1 1-2
2-3
1
Walks
3-4
4+
0-1
1-2
2-3
2
3-4
4+
Walks with Assistance
0-1
1-2
2-3
3
3-4
Wheelchair
4+
0-1
1-2
2-3
4
3-4
Cannot Walk
4+

17. 100
93
Late-infantile
Walking Difficulty
90
80
76
70
60
61
1-2
2-3
4
Percent
60
50
40
40
30
20
16
16
10
8
10
5
0
0
27
25
0
Age0-1
1-2
3
0
2-3 3-4
1
None
10
4+
3
0
0-1
0
1-2
2-3
2
Mild
3-4
4+
0-1
1-2
2-3
3
3-4
Moderate
4+
0-1
Severe
3-4
4+

18. 120
100
100
Juvenile Sitting
100
100
86
Percent
80
60
50
50
40
20
14
0
0
0
1-2
4-5
6-72
0
0
0
0
0
1-2
4-5
6-7
3
7-8
10+
0
Age 1-2
4-5
6-7
1
Can Sit
7-8
10+
7-8
10+
Sits With Assistance
Cannot Sit

19. 120
100
100
100
100
Juvenile Walking
86
Percent
80
75
60
40
25
20
14
0
0
Age 1-2
4-5
6-7
1
Walks
7-8
10+
0
0
1-2
4-5
6-7
2
0
7-8
10+
Walks with Assistance
0
0
0
0
1-2
4-5
6-7
3
7-8
Wheelchair
0
10+
0
0
0
0
1-2
4-5
6-7
4
7-8
10+
Cannot Walk

20. 120
100
100
Juvenile
Walking Difficulty
100
100
Percent
80
57
60
50
40
29
25
25
20
14
0
0
Age 1-2
4-5
6-7
1
None
7-8 10+
0
0
1-2
4-5
6-7 7-8
2
Mild
0
10+
0
0
1-2
4-5
6-7
3
0
7-8
Moderate
10+
0
0
0
0
1-2
4-5
6-7
4
7-8
Severe
10+

21. Conclusions
More rapid, severe
progression in late infantiles
than juvenile
Disease progression is the
most rapid in late infantiles at
age 3 and 4
Disease progression is most
apparent in Juveniles at age 7
to 8