Session Information
Date: Monday, September 23, 2019
Session Title: Ataxia
Session Time: 1:45pm-3:15pm
Location: Les Muses, Level 3
Objective: To elucidate discriminative muscle ultrasound features in Friedreich’s ataxia (FA) between pediatric (p-FA), intermediate (i-FA) and very late onset (VLOFA) subgroups.
Background: Friedreich’s Ataxia (FA) can be subdivided into pediatric (p-FA), intermediate (i-FA) and very late (VLOFA) -onset (starting <18, 18-40 and >40 years of age, resp). P-FA, is often characterized by sensory neuropathy, (cardio)myopathy and motor neuropathy (during the later disease course), VLOFA with combined symptoms including spasticity, whereas the symptomatology of i-FA is still unclear. In the present study, we aimed to elucidate discriminative muscle ultrasound features between these FA subgroups.
Method: We compared quantitative muscle ultrasound parameters between n=12 p-FA [9 (range 4-17)* and 25 (range 12-53)** years], n=9 i-FA [20 (range 18-23)* and 42 (34-53)** years], and n=3 VLOFA [40 (range 40-, 69)* and 73 (55- 79)** years], (median age of onset* and assessment**, resp.) and age-matched healthy controls. FA-phenotypes were compared regarding MUD of proximal (biceps and quadriceps) and distal (tibialis-anterior) muscles and the distal-to-proximal MUD-ratio (for differentiation between neuropathy and myopathy) of the leg muscles (calculated as: MUDtibialis-anterior / MUDquadriceps).
Results: MUD outcomes of all investigated muscles were higher in p-FA, i-FA and VLOFA than healthy controls (all p<.001). MUD data of the total FA group showed a positive correlation with age [all muscles: r=.316; p<.001 and also with disease duration [all muscles: r=.174; p=.042]. MUD outcomes per muscle and the distal-to-proximal MUD-ratio did not significantly differ between p-FA, i-FA and VLOFA.
Conclusion: In FA, quantitative MUD parameters are associated with age. Quantitative MUD parameters can distinguish between FA and healthy controls but not between different FA subtypes. From myopathic perspective, these data may implicate that p-FA, i-FA and VLOFA may still concern the same disease spectrum, despite different phenotypic appearances.
To cite this abstract in AMA style:
R. Verbeek, A. Waalkens, M. Kuiper, C. Verschuuren-Bemelmans, J. Vd Hoeven, J. de Vries, J. van Gaalen, M. Willemsen, H. Kremer, K. Bürk, D. Sival. Muscle Ultrasound Comparison between Early, Intermediate and Late Onset Friedreich’s Ataxia [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/muscle-ultrasound-comparison-between-early-intermediate-and-late-onset-friedreichs-ataxia/. Accessed May 18, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/muscle-ultrasound-comparison-between-early-intermediate-and-late-onset-friedreichs-ataxia/