Four patients with IMD were reported during the review of medical records: 1 patient with MELAS (m.3243A > G), 1 patient with Hurler disease (p.P533R/p.E178K in IDUA gene), and 2 patients with Friedreich’s ataxia (expansion of the number of GAA repeats in exon 1 of FXN gene). Here, FXN is linked to Friedreich ataxia.