Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Marni B JacobsMeredoith K JamesLinda P LowesLindsay N AlfanoMichelle EagleRobert Muni LofraUrsula MooreJia FengLaura E RufibachKristy RoseTina DuongLuca BelloIrene Pedrosa-HernándezScott HolstenChikako SakamotoAurélie CanalNieves Sanchez-Aguilera PráxedesSimone ThieleCatherine SienerBruno VandeveldeBrittney DeWolfElke MaronMichela GuglieriJean-Yves HogrelAndrew M BlamirePierre G CarlierSimone SpulerJohn W DayKristi J JonesDiana X Bharucha-GoebelEmmanuelle Salort-CampanaAlan PestronkMaggie C WalterCarmen ParadasTanya StojkovicMadoka Mori-YoshimuraElena BravverJordi Díaz-ManeraElena PegoraroJerry R Mendellnull nullAnna G MayhewVolker StraubPublished in: Annals of neurology (2021)
The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967-978.