Signs, symptoms, and investigations in family members
| Father II.6 | Paternal uncle II.4 | Paternal uncle II.5 | |
| Age at present (y) | 32 | 31 | 33 |
| Age at onset (y) | 23 | “Teens” | 16 |
| First symptoms/signs | Backache, ataxia | Backache, ataxia | Ataxia, kyphoscoliosis |
| Details of last neurological examination | |||
| Age | 31 | 23 | 23 |
| Lower limbs | |||
| Tone | ↑↑ | ↑↑ | ↑↑ |
| Power | ↓↓ | ↓↓ | ↓↓ |
| Reflexes | All absent | All absent | All absent |
| Plantar reflexes | ↑↑ | ? ? | ↑↑ |
| Nystagmus | Yes | Yes | None aged 23 |
| Ataxic gait | Yes | Yes | Yes |
| Finger nose ataxia | Yes | Yes | Yes |
| Pes cavus | + + | + + | + + |
| Progression | Still ambulant | Ambulant at 23 | Wheelchair at 28 |
| Echocardiography | Probable early cardiomyopathy | Normal at 23 | Normal at 25 |
| Clinical diagnosis | FA | FA | FA |
| DNA confirmation | Yes | Not done | Not done |
FA, Friedreich's ataxia.