Debrancher enzyme deficiency (glycogenosis type III) Date put on line :  22 November 2007 MFM was chosen to evaluate a cohort of child and adult patients followed in 2 centres (Institut de Myologie and Antoine Béclère). The study began in 2006. Coordinators: Pascal Laforêt, doctor, Institut de Myologie, Hospital Pitié-Salpêtrière, Paris, France (pascal.laforet@psl.ap-hop-paris.fr) Philippe Labrune, doctor, Hospital Antoine Béclert, Clamart, France, email address

Calpainopathies. Date put on line :  26 July 2007 This multicentre (Paris, la Réunion, San Sebastian) natural history study concerns 83 patients followed over 2 years. The study began in 2004.The patients were evaluated by MFM, as well as MMT (manual muscular testing) and by quantified strength measures: Biodex and QMT (quantified muscular testing). Study coordinator : Andoni Urtizbérea, doctor, Centre hospitalier hélio-marin, Hendaye, France (andoni.urtizberea@hnd.aphp.fr)

Late onset POMPE disease (glycogen storage disease type II). Date put on line :  26 July 2007 MFM is used in the open protocol carried out, in Garches, among 5 patients presenting a severe form of the disease (ventilated patients). MFM is also used for the follow-up of the patients within the framework of the French national registry (natural history, and patients receiving enzymotherapy). MMT, quantified strength measures (Biodex, QMT) and timed tests are performed in parallel. By the end of 2006, 50 patients were included in the Maltase database (of whom approximately 20 had had at least one MFM). Study coordinator : Pascal Laforêt, doctor, Institut de Myologie, Hospital Pitié-Salpêtrière, Paris, France (pascal.laforet@psl.ap-hop-paris.fr)

ASIRI or study of the efficacy of, and tolerance to, Riluzole for the treatment of type II and type III SMA. Date put on line :  26 July 2007 Randomised study against double blind placebo among parallel groups. The multicentre study plans to include 150 children from 6 to 20 years old. The total score of the MFM is the main judgement criteria. The secondary functional criteria are forced vital capacity, quality of life (OKado), MIF and MFM sub-scores D1, D2 and D3. The length of the study for each patient is two years. Inclusions began in 2006. The expected effect is the deceleration of neuronal degeneration with repercussion on the motor function. Study coordinator : Brigitte Estournet, doctor, Hôpital Raymond Poincaré, Garches, France (brigitte.estournet@rpc.ap-hop-paris.fr) Referent physiotherapist : F. Girardot (francoise.girardot@chu-lyon.fr), executive physiotherapist, Hospices Civils de Lyon. Study promoter: AP-HP. Funding: AFM

Functioning, quality of life and health care needs in adults with DMD and their informal caregivers in the Netherlands. Date put on line :  26 July 2007 In this descriptive study called "Duchenne in the 3rd decade (3D)", the MFM is used as a tool to evaluate the motor status of adults with DMD. The inclusion of the subjects started at the beginning of 2007; the aim is to include 115 men with DMD over 20 years old. Study coordinator : R. F Pangalila, doctor, department of rehabilitation, Erasmus Universiteit Rotterdam, the Netherlands (r.pangalila@erasmusmc.nl)

Validation of the MFM in neuromuscular diseases before the age of 7 Date put on line :  26 July 2007 The MFM having been initially validated between ages 6 and 60, it appeared useful to validate it in young children. The validation is envisaged in France and will concern 60 to 80 children with neuromuscular diseases whose diagnosis is confirmed or not. The project will begin once the study on valid children is completed. Study coordinator : Capucine de Lattre, doctor, service l’Escale, Hospices Civils de Lyon, France, (capucine.de-lattre@chu-lyon.fr)

Administering the MFM in a population of valid children under 7 years old Date put on line :  26 July 2007 Feasibility study among young children from 2 to 7 years old; checking the administration instructions and the possibilities of carrying-out the items according to the age. Study coordinator : Alain Jouve, physiotherapist, AFM, Evry, France (alain.jouve@worldonline.fr)

Validation of the Portuguese version of the MFM Date put on line :  26 July 2007 The Portuguese version was administered to 60 DMD, BMD, FSHD, LGMD and congenital myopathy patients from 6 to 60 years old. A filmed recording was made during the test, which lasted from 30 to 50'. All the subjects received a 2nd rating from 3 independent observers, based on the filmed sequences. Cristina Iwabe, physiotherapist, and Anamarli Nucci, doctor, Universidade Estadual de Campinas, Unicamp, Brazil (crisiwabe@hotmail.com).

Motor Status of as Chilean population with Duchenne's muscular dystrophy Date put on line :  26 July 2007 We evaluated 21 children with DMD aged 6 – 16 (10.38 + 2.89) who are living in the community with the purpose of quantify their motor status considering 3 clinical parameters and study the relation among these data. Method: muscle force was evaluated using manual muscle testing (MMT), contractures using goniometry, and motor function using the Motor Function Measure (MFM). Results: The lower limbs were more seriously affected by contractures and muscle weakness than the upper limbs (p<0.05) to all the subjects. Only the motor function showed a statistical relation with the subject’s age (p<0.05 / pearson r= -0.55). The MFM showed a very good correlation with the magnitude of the contractures (p<0.05; spearman´s rho=-0.86) and with the levels of muscle force (p<0.05; spearman´s rho=0.85). Conclusion : The close relation among the motor score and the results of MMT and goniometry support the use of the MFM as a good and useful complementary tool in the evaluation process in patients with DMD. Giancarlo Calcagno – Gladys Méndez, physiotherapists, Santiago, Chile (giancarlocalcagno@yahoo.es)

Quality of life and neuromuscular diseases Date put on line :  26 July 2007 This is a multicentre descriptive study in the Rhone-Alps, concerning the quality of life (QOL) of children and teenagers carrying a NMD. The relation between QOL and motor deficiency (MFM score) is evaluated. The QOL is also the object of comparison, depending on whether it is evaluated by the child him/herself or by the parents, the carers or the doctors. Lastly, the link between the child’s QOL, medical condition, pain and rehabilitation care is studied. The assumption is that the QOL of the children and teenagers is worse than that of a population of valid children and teenagers, but not in relation to the degree of motor deficiency. The QOL would be mostly influenced by the age, the medical complications and also the degree of dependence. The evaluation of the QOL by a third party, whether a carer, the doctor, or the parents is different from that of the child and cannot replace it. Master 2 Research work carried out by Carole Vuillerot, doctor, service l’Escale, Hospices Civils de Lyon, France. Research grant: AFM (carole.vuillerot@wanadoo.fr)

Short (3 months) and medium term (1 year) sensitivity to change in MFM in a population of DMD Date put on line :  11 July 2007 This work concerns the 41 DMD patients of the initial sensitivity study to change and 13 DMD patients who took 2 MFM with a 3-month interval. Concerning the use of the MFM 3 months apart among the DMD, the results highlight a statistically significant difference only for D1 dimension (standing and walking). In the 1-year study all dimensions show a significant difference, as does the total score. A total score and D1 score predicting loss of ambulation within 1 year can be calculated. Contact person: Francoise Girardot, executive physiotherapist, service l’Escale, Hospices Civils de Lyon, France francoise.girardot@chu-lyon.fr