Osteoporosis has been reported in TGFβvs (Kirmani et al., 2010), as well as in MFS (Haine et al., 2015) and the importance of TGFβ pathway on the bone matrix metabolism is well known (Kirmani et al., 2010), the frequency of osteoporosis in SRD is not really known but could represent a third of patients (Schepers et al., 2018). This evidence concerns the gene TGFB1 and dopa-responsive dystonia due to sepiapterin reductase deficiency.