Table 1.
Cohort characteristics
| Classic (n = 35) | Mild (n = 10) | Overall (n = 45) | ||
|---|---|---|---|---|
| Age, years | ||||
| Mean (SD) | 8.7 (3.3) | 12.7 (4.8) | 9.6 (4.0) | |
| Median [IQR] | 7.9 [7.3, 10.8] | 11.9 [8.8, 16.1] | 8.8 [6.8, 11.4] | |
| Range | 3.2–19.0 | 7.3–21.3 | 3.2–21.3 | |
| Age <6 years, n (%) MFM 20 administered | ||||
| Yes | 8 (23) | 0 (0) | 8 (18) | |
| Sex, n (%) | ||||
| Male | 18 (51) | 2 (20) | 20 (44) | |
| Female | 17 (49) | 8 (80) | 25 (55) | |
| Race, n (%) | ||||
| American Indian or Alaskan Native | 1 (3) | 0 (0) | 1 (2) | |
| Asian | 5 (14) | 0 (0) | 5 (11) | |
| White | 29 (83) | 10 | 39 (87) | |
| Black | 0 (0) | 0 (0) | 0 (0) | |
| Ethnicity, n (%) | ||||
| Hispanic | 10 (29) | 1 (10) | 11 (24) | |
| Non-Hispanic | 25 (71) | 9 (90) | 34 (76) | |
| Ambulation status, n (%) | ||||
| Independent | 16 (46) | 9 (90) | 25 (56) | |
| Assisted | 9 (26) | 1 (10) | 10 (22) | |
| Non-ambulant | 10 (29) | 0 (0) | 10 (22) | |
| Mutation, n (%) | ||||
| CRIM negative | 14 (40) | 0 (0) | 14 (31) | |
| CRIM positive | 21 (60) | 10 (100) | 31 (69) | |
Demographic information as well as functional ambulation status shown in table, which includes a total of 45 individuals with GAN-s35 with the classic phenotype and 10 with the mild phenotype. Demographic information is noted as total number of patients followed by the percentage in parentheses. CRIM status refers to cross-reactive immunological material and is reported here as predicted CRIM status based on genetic phenotype. Those with biallelic null mutations are listed as CRIM negative, all others are listed as CRIM positive.