10.5061/DRYAD.2V6WWPZKK
Natera-de Benito, Daniel
0000-0001-7764-2085
Hospital Sant Joan de Déu Barcelona
Association of Initial Maximal Motor Ability with Long-term Functional
Outcome in Patients with COL6-related Dystrophies
Dryad
dataset
2020
2021-12-12T00:00:00Z
2021-02-04T00:00:00Z
en
https://doi.org/10.1212/WNL.0000000000011499
50773 bytes
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CC0 1.0 Universal (CC0 1.0) Public Domain Dedication
Objective: To accurately categorize the phenotypes of individuals with
collagen VI-related dystrophies (COL6-RDs)during the first years of life
in order to predict long-term motor function and pulmonary
function, provide phenotype-specific anticipatory care and improve
clinical trial readiness. Methods: This retrospective, multicenter,
international study analyzed the relationship of long-term motor and
pulmonary function with the initial maximal motor ability achieved in
individuals with COL6-RD. Results: We studied 119 patients with COL6-RD
from Spain (n = 54) and the US (n = 65). The early maximal motor
milestones of (1.) ability to rise from the floor unassisted and (2.) the
ability to climb four steps without holding onto the railing demonstrated
reliability in distinguishing between three COL6-RD phenotypic subgroups:
(1.) Ullrich congenital muscular dystrophy, (2.) Intermediate COL6-RD and
(3.) Bethlem myopathy. Long-term motor function and pulmonary function are
strongly correlated with the maximal motor ability achieved during the
first years of life. Maximal motor capacity can predict other disease
relevant events such as the age at loss of ambulation and the need for the
initiation of nocturnal noninvasive ventilation. Conclusion: This work
proposes a prospective phenotypic classification for COL6-RDs which will
enable an accurateprediction of a patient’s COL6-RD phenotype during the
first years of life. The ability to establish a patient’s
COL6-RD phenotypic classification early will enable a more accurate
prognosis of future motor and pulmonary function thus
improving anticipatory clinical care, and it will be instrumental in
aiding the design of future clinical trials by allowing for early
stratification of trial cohorts.