Skip to main content

Table 2 Clinical summary of patients

From: A nationwide survey on Marinesco-Sjögren syndrome in Japan

SIL1 mutations

Positive (n = 24)

Negative (n = 3)

Not examined (n = 9)

Ocular involvements

Cataracts

24/24 (100%), 2y-6y

3/3 (100%)

9/9 (100%)

Strabismus

10/18 (56%)

1/3 (33%)

5/7 (71%)

Motor functions

Muscle weakness

21/22 (95%), 2y-52y

3/3 (100%)

9/9 (100%)

Development

Head control

21/21 (100%), 4 m-18 m

5 m-8 m

4 m-7 m

Sit

20/20 (100%), 10 m-36 m

12 m-18 m

12 m-36 m

Stand with support

16/20 (80%), 1y-4y

15 m, 24 m

15 m-6y

Walk with support

16/20 (80%), 2y-22y

2/2 (100%) 15 m, 24 m

3/3 (100%) 15 m-6y

Loss of ambulation

5/16, 13y-28y

  

Cerebellar signs

Hypotonia

21/24 (88%)

3/3 (100%)

9/9 (100%)

Ataxia

16/24 (67%), 2y-52y

2/3 (100%)

6/8 (75%)

Nystagmus

11/24 (46%), 2y-45y

0/3

5/8 (63%)

Dysarthria

8/24 (33%), 2y-48y

2/3 (67%)

4/9 (44%)

Psychomotor delay

20/22 (91%), IQ(DQ):24-100

3/3 (100%)

9/9 (100%)

Hypogonadism

3/8 (38%)

0/1

2/3 (67%)

Skeletal abnormalities

Short stature

12/18 (67%),

1/3 (33%)

3/8 (38%)

Spinal deformities

8/22 (36%)

1/3 (33%)

3/7 (43%)

Flat foot

7/22 (32%)

0/3

1/7 (14%)

Short fingers

5/22 (23%)

0/3

2/8 (25%)

Others

Serum CK (IU/L)

28-2000

144-3010

95-600

Cerebellar atrophy

19/19 (100%)

3/3 (100%)

9/9(100%)

Rimmed vacuoles in muscles

16/16 (100%)

0/1

2/6 (33%)