Table 1.
Comparison of FRDA and Some Other Pediatric Onset Neurological Disorders
| Feature | FRDA | SMA (Type I) | CMT1A | Duchenne | Ataxia Telangiectasia |
|---|---|---|---|---|---|
| Age of onset | 5–15, sometimes older | <2 | 10–30 | <4 | <5 |
| Inheritance | Recessive | Recessive | Dominant | X linked | Recessive |
| Clinical Imaging studies | Essentially normal | Normal | Normal | Normal | Cerebellar atrophy |
| Scoliosis | >70% | Yes in later onset | Not common | Always | High percentage |
| Diabetes | 20% | No | No | No | No |
| Cardiac pathology | Hypertrophic followed by fibrosis | None | None | Fibrosis | None |
| ECG | Inverted T waves in II,III, AVF in >90% of people | None | None | Fibrosis | None |
| PFT | Normal until late | Restrictive | Normal | Restrictive | Restrictive, pulmonary telangiectasia |
| Reflexes | Absent | Absent | Absent | Absent | Absent |
| Sensory loss | Large fiber | None | All modalities | None | None |
| Cognitive features | Late feature, matching cerebellar cognitive syndromes | None | None | Dementia In some | Frequent changes |