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
Responsiveness of the Motor Function Measure in Patients With Spinal Muscular Atrophy.
Vuillerot C, Payan C, Iwaz J, Ecochard R, Bérard C and the MFM Spinal Muscular Atrophy Study Group. Arch Phys Med Rehabil. 2013. 94(8) : 1555-61. Assessment in 112 patients with Spinal Muscular Atrophy (SMA) aged 5.7 to 59 years of the ability of the MFM to detect...
Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy.
Fischmann A, Hafner P, Gloor M, Schmid M, Klein A, Pohlman U, Waltz T, Gonzalez R, Haas T, Bieri O, Fischer D. J Neurol. 2013. 260(4):969-74. The purpose of this trial was to correlate quantitative MRI with functional abilities, evaluate using MFM in 22 ambulant or...
Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment
van den Engel-Hoek L, Erasmus CE, Hendriks JC, Geurts AC, Klein WM, Pillen S, Sie LT, de Swart BJ, de Groot IJ. J Neurol. 2013. 260(5):1295-303. Dysphagia is reported in advanced stages of Duchenne muscular dystrophy (DMD). Authors aimed to describe the dysphagia in...
Responsiveness of the Motor Function Measure in Neuromuscular Diseases
Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Bérard C, Ecochard R, and the MFM Study Group.Arch Phys Med Rehabil 2012. 93(12):2551-2556. Study of the responsiveness of the MFM in 152 neuromuscular disease patients.MFM showed a good responsiveness, especially...
The role of physical therapy in the preservation of motor skills in Becker’s muscular dystrophy–a case study
Codrea TA, Pop NH. Palestrica of the Third Millennium - Civilization and Sport. 13(3):272-275. A physical therapy protocol was applied to a 19 years old Becker’s muscular dystrophy patients. Motor skills were evaluated using the MFM. The long term objectives of the...
Motor assessment in patients with Duchenne muscular dystrophy
Diniz GP, Lasmar LM, Giannetti JG. Arq Neuropsiquiatr. 2012. 70(6): 416-21. This study of 20 DMD patients shows the sensitivity of the MFM with six months between two applications. PubMed link Keywords: Duchenne muscular dystrophy, MFM, Medical research concil ...