Table 2 Clinical description of the 29 PMM2-CDG adult patients
Mean age at last examination in years (range) | 24 (15–49) | |
Gender M/F | 13/16 | |
Short stature | 13/25 (52%) | |
Ovarian failure | 16/16 (100%) | |
Cerebellar ataxia | 29/29 (100%) | |
SDFS at last examination (years) | 1-3 | 16/29 (55%) |
4-5 | 6/29 (21%) | |
6-7 | 7/29 (24%) | |
Mean age at walking in years (range) | 4 (1,25-14) | |
Neuropathy | 13/22 (59%) | |
Skeletal involvement | Kyphoscoliosis | 17/24 (71%) |
Osteopenia/osteoporosis | 7/7 (100%) | |
Ophthalmological signs | Retinopathy (fundus oculi or ERG) | 10/29 (35%) |
Strabismus | 25/29 (86%) | |
Epilepsy | 8/23 (35%) | |
Venous thrombosis | 5/21 (24%) | |
Stroke-like episodes (adulthood) | 0/18 (0%) | |
Reading/writing capacity | Acquired | 6/15 (40%) |
Able to deciphering | 4/15 (27%) | |
Unable to read/write | 5/15 (33%) | |
Language abilities | Speak sentences | 18/27 (67%) |
Speak words | 6/27 (22%) | |
Absent language | 3/27 (11%) | |
Schooling | Diploma* | 2 /21 (14%) |
Adapted education in normal school | 11/21 (53%) | |
Special institute for disabled individuals | 7/21 (33%) | |
Professional status | Sheltered work | 9/22 (41%) |
Unable to work | 7/22 (32%) | |
School age (15–18 years) | 6/22 (27%) | |
Living place | Independent | 1/16 (6%) |
Institution | 5/16 (31%) | |