Abstract #1220
UPPER LIMB MUSCLE FAT-WATER QUANTIFICATION IN NON-AMBULANT DUCHENNE MUSCULAR DYSTROPHY
*Valeria Ricotti 1 , *Matthew RB Evans 2 , Christopher DJ Sinclair 2 , Jasper M Morrow 2 , Jordan W Butler 1 , Robert L Janiczek 3 , Michael G Hanna 2 , Paul M Matthews 3 , Tarek A Yousry 2 , Francesco Muntoni 1,2 , and John S Thornton 2
1
Dubowitz Neuromuscular Centre, UCL Institute
of Child Health and Great Ormond Street Hospital,
London, United Kingdom,
2
MRC
Centre for Neuromuscular Diseases, UCL Institute of
Neurology, London, United Kingdom,
3
GlaxoSmithKline,
London, United Kingdom
Assessing dystrophin restoration in the muscle of DMD
patients undergoing experimental gene therapies requires
an invasive muscle biopsy. MRI may provide a
non-invasive alternative to evaluate response to
therapy; however the natural course of DMD muscle
changes needs to be established. Examination of the
upper limb will allow recruitment of ambulant and
non-ambulant patients in clinical trials. Eight
non-ambulant DMD patients and 10 healthy controls
underwent 3-point Dixon fat-fraction forearm imaging
revealing significantly higher fat fraction and muscle
atrophy in DMD. Additionally, duration of non-ambulation
and wrist extension myometry correlated with MRI
indices. MRI is a potential biomarker for evaluating DMD
progression.
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