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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