Registre Français de la maladie de Pompe. Caractérisation d’une cohorte de 126 patients adultes
P. Laforêt, K. Laloui, B. Granger, D. Hamroun, N. Taouagh, JY. Hogrel, D. Orlikowski, F. Bouhour, A. Lacour, E. Salort-Campana, I. Penisson-Besnier, S. Sacconi, F. Zagnoli, F. Chapon, B. Eymard, C. Desnuelle, J. Pouget et le French Pompe Registry Study Group
Revue neurologique. 2013. 169:595-602.
The French Pompe registry was created in 2004 with the initial aim of studying the natural history of French patients with adult Pompe disease. Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa, Myozyme1), the French Pompe registry has also been used to prospectively gather the biological and clinical follow-up data of all adult patients currently treated in France.
This report describes the main clinical and molecular features, at the time of inclusion in the French registry, of 126 patients followed up in 21 hospital-based neuromuscular or metabolic centers. The MFM, which has been used to evaluate the level of impairment of muscle function, appears to be a useful tool, particularly with regard to the D1 domain. Good correlations between MFM scores and 6MWT confirmed the importance of the MFM measurement in the follow-up of patients with Pompe disease.
Keywords: Pompe disease, Pompe registry, Acid alpha-glucosidase deficiency
Articles in scientific journals
Gait Assessment in Children With Duchenne Muscular Dystrophy During Long-Distance Walking
Ganea R, Jeannet PY, Paraschiv-Ionescu A, Goemans N, Piot C, Van den Hauwe M, Aminian K. J Child Neurol. 2012. 27: 1 30-38. Gait patterns of 25 children with Duchenne muscular dystrophy were compared to that of healthy children. Authors showed that Duchenne muscular...
Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy.
Silva EC, Machado DL, Resende MB, Silva RF, Zanoteli E, Reed UC. Arq Neuropsiquiatr. 2012. 70(3): 191-5. Description of the evolution of the motor function of 33 DMD patients (27 ambulant and 6 non ambulant at inclusion) treated with steroids during 18 month assessed...
Quantitative MRI can detect subclinical disease progression in muscular dystrophy.
Fischmann A, Hafner P, Fasler S, Gloor M, Bieri O, Studler U, Fischer D. J Neurol. 2012. 259(8): 1648-54. The aim of this study was to compare different methods of quantitative and semiquantitative MRI in order to validate clinical parameters for the follow-u of...
The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder.
Jansen M, De Jong M, Coes HM, Eggermont F, Van Alfen N, De Groot IJ. Muscle Nerve. 2012. 46(4): 520-3. Development of the "assisted 6-minute cycling" aiming to assess DMD patients' endurance.MFM is use as a gold standard.PubMed linkKeywords: Assisted 6-minute cycling...
Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy
Fischmann A, Gloor M, Fasler S, Haas T, Rodoni Wetzel R, Bieri O, Wetzel S, Heinimann K, Scheffler K, Fischer D. J Neurol 2011. 258: 1333–1340. Oculopharyngeal muscular dystrophy (OPMD) is a progressive skeletal muscle dystrophy characterized by ptosis, dysphagia, and...
Impaired Mandibular Function in Spinal Muscular Atrophy Type II: Need for Early Recognition
van Bruggen HW, van den Engel-Hoek L, van der Pol WL, de Wijer A, de Groot IJ, Steenks MH. J Child Neurol. Nov 2011. 26: 1392 - 1396. The aim of the study is to assess mandibular function in young patients with spinal muscular atrophy type II. The mandibular function...