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Table 1 Patients with FRDA treated with steroids

From: Friedreich Ataxia and nephrotic syndrome: a series of two patients

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
  1. aPhenotype at closest exam to steroid use