title: Can stapedius reflex testing objectively measure muscle function in Pompe patients?
abstract: We assessed the value of stapedius reflex testing as an objective measurement of striated muscle function in four patients with Pompe disease. Common tests of disease severity and efficacy of enzyme replacement therapy (ERT) yield highly variable results that depend on patient cooperation and day-to-day performance, whereas stapedius reflex thresholds improved in seven of eight ears after 2 years of ERT.
authors.affiliation: Department of Neurology, University of Erlangen-Nuremberg Schwabachanlage 6, D-91054, Erlangen, Germany.
authors.forename: Max J
authors.initials: MJ
authors.lastname: Hilz
authors.affiliation: Department of Audiology, University of Erlangen-Nuremberg Waldstraße 1, D-91054, Erlangen, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Hoppe
authors.affiliation: Department of Neurology, University of Erlangen-Nuremberg Schwabachanlage 6, D-91054, Erlangen, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Moeller
authors.affiliation: Department of Neurology, University of Erlangen-Nuremberg Schwabachanlage 6, D-91054, Erlangen, Germany.
authors.forename: Ruihao
authors.initials: R
authors.lastname: Wang
authors.affiliation: Department of Neurology, University of Erlangen-Nuremberg Schwabachanlage 6, D-91054, Erlangen, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Koehn
keywords: Enzyme replacement therapy; Pompe disease; muscle function; stapedius reflex testing