Table 1.
Patients with FRDA treated with steroids
| Patient No. GAA repeats | Age of FRDA onset | Clinical course | Phenotypea | Immunomodulator | Dose | Duration | Reason for steroid treatment | Response | Age of steroid treatment |
|---|---|---|---|---|---|---|---|---|---|
| Patient 1 described 650, 1000 |
4 | Began using wheelchair at age 10; scoliosis surgery at age 13 | Ataxia, loss of balance, loss of sensation, leg cramps, tremors, hypertrophic cardiomyopathy, scoliosis, fatigue | Prednisolone, oral | 30 BID-50 QD | 26 months over 6 years | Nephrotic syndrome | Recurrent neurologic improvement coincident with steroid dosing | 8–14 |
| Patient 2 described 650, 950 |
10 | Began using wheelchair at age 12 | Ataxia, loss of balance, loss of sensation, spasms, hypertrophic cardiomyopathy, arrhythmia, scoliosis | Prednisone, oral | unknown | 8 years | Nephrotic syndrome | Possible delay in presentation | 2–10 |
| Patient 3 500, 570 |
15 | Began using cane at 23, wheelchair at 29 | Ataxia, loss of balance, loss of sensation, leg spasms, restless legs, scoliosis, sleep apnea | Prednisone and Medrol, oral | 8 QAM | 4–5 months | Chronic inflammatory demyelinating polyneuropathy (likely misdiagnosis) | Mild improvements in gait, eventual progression | 18 |
| Patient 4 725, presumed point mutation |
7 | Began using wheelchair at 17 | Ataxia, loss of balance, loss of sensation, leg spasms, restless legs, sleep apnea, fatigue, hypertrophic cardiomyopathy, scoliosis | Prednisone, oral | 15–30 mg BID | 7 months | Chronic inflammatory demyelinating polyneuropathy (likely misdiagnosis) | Improvements in balance, eventual progression | 12 |
| Patient 5 unknown |
unknown | Unknown | Unknown | Prednisone | unknown | unknown | Rib fractures | Improvement in Gait | unknown |
| Patient 6 1000, 1000 |
3 | Began using wheelchair at age 7 | Ataxia, loss of balance, loss of sensation, leg spasms, restless legs, increased tone, tremor, hypertrophic cardiomyopathy, scoliosis | Prednisolone | unknown | unknown | Chronic inflammatory demyelinating polyneuropathy (likely misdiagnosis) | Improvement in gait and strength, eventual progression | 3 |
| Patient 7 1113, point mutation |
2 | Began using walker at age 5 | Ataxia, loss of balance, loss of sensation, leg spasms, sleep apnea, hypertrophic cardiomyopathy, scoliosis | Methylprednisolone, pulse therapy | 30 mg QD | 5 days | Pneumonitis | No change in gait, balance, improved energy | 6 |
| Patient 8 766, 1000 |
7 | Able to walk without assistive device | Minimal ataxia, loss of balance, no scoliosis or cardiac screening | Solumedrol, oral | 5 mg TID | 5 months | Unclear | Sustained improvements in balance, eventual progression | 9 |
| Patient 9 41, 696 |
43 | Began using a walker at age 58 | Ataxia, loss of balance, loss of sensation, leg spasms, increased tone | Depomedrone, injection | 80 mg QD | 7–9 years | Sciatic pain | Improvements in gait and speech | 49 |
| Patient 10 966, 1099 |
2 | Able to walk without assistive device | Ataxia, loss of balance, loss of sensation, fatigue | Prednisolone, oral | 30 mg OPD | 3 days | Acute laryngotra-cheitis | Improvements in falling and fatigue | 8 |
aPhenotype at closest exam to steroid use