Open AccessUpper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy
Author(s) -
Lilien Charlotte,
Reyngoudt Harmen,
Seferian Andreea Mihaela,
Gidaro Teresa,
Annoussamy Mélanie,
Chê Virginie,
Decostre Valérie,
Ledoux Isabelle,
Le Louër Julien,
Guemas Eric,
Muntoni Francesco,
Hogrel JeanYves,
Carlier Pierre Georges,
Servais Laurent
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51417
Subject(s) - medicine , ambulatory , duchenne muscular dystrophy , grip strength , magnetic resonance imaging , population , muscular dystrophy , physical medicine and rehabilitation , upper limb , physical therapy , radiology , environmental health
Objective To understand the natural disease upper limb progression over 3 years of ambulatory and non‐ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic factors. Methods Forty boys with DMD (22 non‐ambulatory and 18 ambulatory) with deletions in dystrophin that make them eligible for exon 53‐skipping therapy were included. Clinical assessments, including Brooke score, motor function measure (MFM), hand grip and key pinch strength, and upper limb distal coordination and endurance (MoviPlate), were performed every 6 months and quantitative MRI of fat fraction (FF) and lean muscle cross sectional area (flexor and extensor muscles) were performed yearly. Results In the whole population, there were strong nonlinear correlations between outcome measures. In non‐ambulatory patients, annual changes over the course of 3 years were detected with high sensitivity standard response mean (|SRM| ≥0.8) for quantitative MRI‐based FF, hand grip and key pinch, and MFM. Boys who presented with a FF<20% and a grip strength >27% were able to bring a glass to their mouth and retained this ability in the following 3 years. Ambulatory patients with grip strength >35% of predicted value and FF <10% retained ambulation 3 years later. Interpretation We demonstrate that continuous decline in upper limb strength, function, and MRI measured muscle structure can be reliably measured in ambulatory and non‐ambulatory boys with DMD with high SRM and strong correlations between outcomes. Our results suggest that a combination of grip strength and FF can be used to predict important motor milestones.