Titre : | Application of the motor function measure(mfm)scale in dysferlinopathy : preliminary results (poster) : Acte de colloque : 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) |
contenu dans : | |
Auteurs : | Zamorano-Valdebenito I ; Urzúa R ; Hughes-García R |
Type de document : | Article |
Année de publication : | 2011 |
Pages : | p 74 |
Langues: | Anglais |
Mots-clés : | colloque ; MFM (Mesure de la fonction motrice) ; motricité |
Résumé : |
Application of the Motor Function Measure (MFM) scale in dysferlinopathy: preliminary results.
The Motor Function Measure (MFM) scale has been designed for the assessment of motor function and monitoring weakness in neuromuscular disorders. It is applicable to patients with neuromuscular diseases of all types with variable severity of impairment. Although it has been validated in LGMD as a group, patients affected by dysferlinopathy (LGMD2B MIM#253601, Miyoshi myopathy MIM#254130) have not been assessed individually as a group. We applied the MFM scale to a group of nine patients with confirmed diagnosis of dysferlinopathy.Table 1. Summary of the MFM score in patients with dysferlinopathy according to disease duration.THISISATABLE< class="MsoNormalTable" border="0" cellspacing="0" cellpadding="0" style="border-collapse:collapse;mso-table-layout-alt:fixed;mso-padding-alt: 0cm 3.5pt 0cm 3.5pt"> Patient N Age Gender P1/30/F P2/21/M P3/25/M P4/30/F P5/27/M P6/27/F P7/35/M P8/43/F P9/43/M Disease Duration yr 3 5 6 6 7 8 12 13 24 D1 92,3% 56,4% 5,1% 49% 71,8% 17,9% 2,7% 15,4% 5,1% D2 100% 88,8% 75% 97,2% 100% 80,1% 66,7% 91,7% 86,1% D3 100% 95,2% 95% 95,2% 100% 95,2% 95,2% 85,7% 90 % Total MFM 96,7% 77,1% 51% 77,8% 89% 57,3% 53,1% 59,4% 54,1% Four women and five men were assessed once with the MFM-32. Clinical phenotype was consistent with MM 6 patients, but patients 1, 8 and 9 showed a proximo-distal (PD) phenotype. Age of the patients ranged from 21 o 43 years; disease duration from initial symptoms was between 3 and 24 years (Table 1). All patients scored less in standing and transfers (dimension 1, D1); axial and proximal motor capabilities (D2) were less affected and distal motor assessment (D3) was only mildly affected. As a main tendency, total MFM score decreased proportional to disease duration however significant inter-individual variation was observed according to disease severity. Total MFM score did not fall down 50% in any case, even after 24 years of disease, but this level could be reached as early as after 6 years of disease course. Our data suggest that the MFM scale is a useful tool to measure the deficit in this subset of patients. In addition these preliminary results suggest that scoring pattern of all the patients is consistent, despite the initial clinical phenotype presented. Further periodical assessment of the patients will allow demonstrating the use of the scale in monitoring disease progression or response to therapeutic interventions. Supported by FONDECYT 1110159 |