Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
Orlikowski D, Pellegrini N, Prigent H, Laforêt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D.
Neuromuscul Disord. 2011. 21(7):477-82.
This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy in 5 adult patients with severe Pompe disease.
Motor and respiratory function, quantitative muscle testing and spirometry were assessed. Concerning motor function assessed by MFM, 3 patients, wheelchair bound at baseline, improved sitting and proximal motor function and 2 patients improved in their ability to stand and transfer.
Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease.
Keywords: Pompe disease; Alglucosidase alfa; Enzyme replacement therapy; rhGAA
Articles dans les revues scientifiques
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 ...