Table 1. Clinical characteristics of 17 PBS patients with LAMA1 variants affecting function.
| Number of patients (%) | |
|---|---|
| Gender (female) | 8/17 (47%) |
| Parental consanguinity | 1/17 (6%) |
| Age at first symptoms below 6 months | 17/17 (100%) |
| Developmental delay as first symptom | 13/17 (77%) |
| Age at follow-up (mean, range) | 7.2 (1.5–14.0) |
| Ataxia | 16/16 (100%)a |
| Ocular motor apraxia | 13/17 (76%) |
| Strabismus | 7/17 (41%) |
| Cognitive impairment | 15/17 (88%) |
| Speech/language delay | 16/17 (94%) |
| Other neurological findingsb | 1/17 (6%) |
| Myopia | 9/17 (53%) |
| Retinal dystrophy | 4/17 (24%) |
| Other clinical findings | 0/17 |
a
One child was too young for the evaluation of ataxia.
b
Ballistic movements in one patient.