Muscle ultrasound comparison between patients with early and delayed onset Friedreich's ataxia – Preliminary data

R.J. Verbeek, A.J.E. Waalkens, M.J. Kuiper, C.C. Verschuuren-Bemelmans, J.H. van der Hoeven, J.J. de Vries, J. van Gaalen, M.A.A.P. Willemsen, H.P.H. Kremer, D.A. Sival, European Journal of Paediatric Neurology, Volume 21, Supplement 1, June 2017, Page e234, ISSN 1090-3798, doi:10.1016/j.ejpn.2017.04.1259.

Muscle ultrasound density leg-muscle parameters are substantially higher in d-FA than healthy subjects, but do not reveal a discriminative pattern between d-FA and p-FA phenotypes. This could be attributed to the large proportion of d-FA patients with an intermediate (mildly-delayed) age of onset (17-25 years, n=7/8 (88%)) and to the cross-sectional nature of the study. These findings implicate that p-FA and “intermediate-d-FA” muscle ultrasound outcomes refer to a similar neuro-muscular spectrum rather than distinctly different neuromuscular phenotypes.

Muscle ultrasound comparison between patients with early and delayed onset Friedreich's ataxia – Preliminary data