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Diagnosis of FRDA
| Case no. | Current age (years) | Age at symptom onset (years) | Age at diagnosis (years) | Duration pre-diagnosis (years) | Karyotype | MRI brain |
|---|---|---|---|---|---|---|
| 1a | 16 | 5 | 10 | 5 | N | Y |
| 2 | 17 | 10 | 11.5 | 1.5 | N | Y |
| 3 | 17.5 | 13 | 15 | 2 | Y | N |
| 4 | 16 | 13 | 14 | 1 | N | Y |
| 5 | 11 | 5 | 9 | 4 | N | N |
| 6 | 8.5 | 6 | 7.5 | 1.5 | N | N |
| 7 | 8 | 5 | 6 | 1 | N | N |
| 8 | 8 | 7.25 | 7.5 | 0.25 | N | N |
| 9 | 8.5 | 7.5 | 8.5 | 1 | N | Y |
| Median (range) | 11 (8–17.5) | 7.25 (5–13) | 9 (6–15) | 1.5 (0.25–5) | [1/9] | [4/9] |
aIndex case
Y test conducted, N test not conducted
