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
Upper limb function in adults with Duchenne muscular dystrophy
Bartels G, Pangalila RF, Bergen MP, Cobben NAM, Stam HJ, Roebroeck ME. J Rehabil Med 2011. 43(9) : 770-5. This study illustrates a large variability in upper limb function in adult patients with Duchenne muscular dystrophy, and identifies muscle strength and range of...
Fonction musculaire et atteinte d’organes dans la dystrophie myotonique de type 1
Pruna L, Machado F, Louis L, Vassé G, Kaminsky P. Revue Neurologie 2011. 167: 23-28. The aim of this study, carried out on 69 patients with type 1 myotonic dystrophy, was to assess the correlations between the MFM score and some organ impairments. The MFM provides an...
Regional body composition and functional impairment in patients with Myotonic Dystrophy
Pruna L, Chatelin J, Pascal-Vigneron V, Kaminsky P. Muscle nerve 2011. 44(4) : 503-8. In this study, fat-free mass index (FFMI), fat mass index (FMI) and functional impairment were examined in 48 patients with myotonic dystrophy type 1 subjects and anthropometrically...
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C, DMD Care Considerations Working Group. Lancet Neurol 2010. 9(1):77-93. The MFM is quoted in this article as an...
Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study.
Jansen M, de Groot IJ, van Alfen N, Geurts AC. BMC Pediatr 2010. 10: 55. The protocol of the NUD (No Use is disuse) study aims to assess whether a low-intensity physical training in DMD patients is beneficial in terms of preserving muscle endurance and functional...
Analyse de la validité de la MFM en pratique clinique de consultation adulte d’un centre de référence pour maladies neuromusculaires
Benaïm C, Sacconi S, Fournier-Mehouas M, Tanant V, Desnuelle C. Revue Neurologie 2010. 166 : 49-53. Between 2005 and 2007, among 100 adults (18-78y) with Steinert myotonic dystrophy or facio-scapulohuméral dystrophy randomly selected in reference center of Nice...