Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies

With interest, I read the article from Luigetti et al. about the work-up for small fiber neuropathy in genetically confirmed patients with a mitochondrial disorder (MID) (m.3243A > G (n = 7), m.8344A > G (n = 4), single mtDNA deletion (n = 9), multiple mtDNA deletions (n = 7)) (Luigetti et al., 2018). By application of the Sudoscan, the sympathetic skin response (SSR), and laser-evoked potentials (LEP), the authors found that 33% of the 27 patients had autonomic small fiber dysfunction by application of the Sudoscan, that only 3/27 patients had an abnormal SSR, and that LEP confirmed the Sudocan findings.

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