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
Neuromuscular diseases and useful instruments in the motor evaluation of children and adolescents
Diniz GPC, Lasmar LMLB, Giannetti JG. Revista Médica de Minas Gerais. 2010. 20(4 Supl 3): S12-S19. Bibliographic review of the most common neuromuscular diseases in children and measurement scales, including MFM, used for the evaluation of these patients.LinkKeywords:...
La Mesure de Fonction Motrice, une échelle validée pour les MNM
Bérard C, Vuillerot C, Girardot F, Hamroun D, Payan C. Les cahiers de Myologie n°2. 2010: 26-34. Description of the development and validation stages of the MFM.Download the documentKeywords: Measure scale, Evaluation, Motor function, Neuromuscular disease Articles...
Monitoring changes and predicting loss of ambulation in Duchenne muscular dystrophy with the Motor Function Measure
Vuillerot C, Girardot F, Payan C, Fermanian J, Iwaz J, de Lattre C, Bérard C. Dev med Child Neurol 2009. 52(1): 60-65. Changes in MFM scores of 12 DMD patients treated with corticosteroids and 54 without treatment. The results support the use of MFM in the treatment...
La Mesure de Fonction Motrice en maladies neuromusculaires
Groupe de recherche interdisciplinaire sur les maladies neuromusculaires. La minute neuromuscule 2009. 2(1). Presentation by the Canadian group GRIMN (Interdisciplinary Research Group on neuromuscular diseases) of the MFM as a tool for assessing motor function. (in...
Escala Medida da Função Motora (MFM): novo instrumento de avaliação em doenças neuromusculares
Iwabe C. Tese de Doutorado apresentada à Pós-Graduação da Faculdade de Ciências Médicas da Universidade Estadual, de Campinas para obtenção do título de Doutor em, Ciências Médicas, Área de Concentração Ciências Biomédicas. 2009. This doctoral thesis focus on the...
Modalités de l’utilisation de l’alpha-glucosidase recombinante humaine (Myosine TM) et du suivi des patients adultes
Annane D, Caillaud C, Laforêt P, Maire I, Nicolino M, Orlikovski D. Recommandations du Comité d'Evaluation du traitement de la maladie de Pompe 2008. In adult Pompe disease, it is recommended to assess patients by MFM initially and every 6 months or annually by the...