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Abstract #4011

Quantitative NMR imaging in Pompe patients to monitor the progression of skeletal muscle alterations without and with enzyme substitution therapy

Pierre G Carlier 1 , Noura Azzabou 1 , Paulo Loureiro de Sousa 1 , Robert-Yves Carlier 2 , Jean-Marc Boisserie 1 , Claire Wary 1 , David Orlikowski 2 , and Pascal Lafort 3

1 AIM-CEA Institut de Myologie, Laboratoire RMN, Paris, France, 2 AP-HP Hpital Universitaire Raymond-Poincar, Garches, France, 3 Centre de rfrence pour les maladies neuromusculaires de l'Est de Paris, AP-HP Hpital Universitaire Piti-Salptrire, Paris, France

In this study, we quantified muscle water T2, a marker of dystrophic disease activity, in thigh and leg muscles of glycogen storage disorder type II (GSDII) patients. One third of GSDII muscles had abnormal T2. We also investigated the relationship between T2 and the extension and progression of fatty degenerative changes in GSDII skeletal muscle. The intramuscular fat content increased faster in muscles displaying an abnormal T2. Enzyme substitution therapy was able to slow down the fatty degenerative changes of adult GSDII patients.

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