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%) |