Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
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Jacobs Marni B, James Meredoith K, Lowes Linda P, Alfano Lindsay N, Eagle Michelle, Muni Lofra Robert, Moore Ursula, Feng Jia, Rufibach Laura E, Rose Kristy, Duong Tina, Bello Luca, Pedrosa-Hernández Irene, Holsten Scott, Sakamoto Chikako, Canal Aurélie, Sanchez-Aguilera Práxedes Nieves, Thiele Simone, Siener Catherine, Vandevelde Bruno, DeWolf Brittney, Maron Elke, Guglieri Michela, Hogrel Jean-Yves, Blamire Andrew M, Carlier Pierre G, Spuler Simone, Day John W, Jones Kristi J, Bharucha-Goebel Diana X, Salort-Campana Emmanuelle, Pestronk Alan, Walter Maggie C, Paradas Carmen, Stojkovic Tanya, Mori-Yoshimura Madoka, Bravver Elena, Díaz-Manera Jordi, Pegoraro Elena, Mendell Jerry R, Jain COS Consortium, Mayhew Anna G, Straub Volker
Аннотация
METHODS: We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories.
RESULTS: The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0.04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline.
INTERPRETATION: 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.