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
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...
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...