Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Minal S. Jain, Katherine Meilleur, Eunhee Kim, Gina Norato, Melissa Waite, Leslie Nelson, Michelle McGuire, Tina Duong, Katherine Keller, Donovan J. Lott, Allan Glanzman, Kristy Rose, Marion Main, Courtney Fiorini, Irene Chrismer, Melody Linton, Monal Punjabi, Jeffrey Elliott, Fatoumata Tounkara, Ruhi VasavadaRanjani Logaraj, Jocelyn Winkert, Sandra Donkervoort, Meganne Leach, Jahannaz Dastgir, Linda Hynan, Carmel Nichols, Elizabeth Hartnett, Gilberto M. Averion, James C. Collins, Eunice S. Kim, Angela Kokkinis, Alice Schindler, Kristen Zukosky, Robert Fee, Veronica Hinton, Payam Mohassel, Diana Bharucha-Goebel, Carole Vuillerot, Peter McGraw, Mark Barton, Joseph Fontana, Anne Rutkowski, A. Reghan Foley, Carsten G. Bönnemann

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Objective To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs). Methods Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts. Results Total MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4.01 and 2.60 points, respectively, each year (p < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% (p < 0.05) and 2.55% (p < 0.01). Range-of-motion measurements decreased by 3.21° (p < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° (p < 0.01) in right knee extension each year in individuals with COL6-RDs. Pulmonary function demonstrated a yearly decline in sitting forced vital capacity percent predicted of 3.03% (p < 0.01) in individuals with COL6-RDs. There was no significant change in quality-of-life measures analyzed. Conclusion Results of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs.

Original languageEnglish (US)
Pages (from-to)E1932-E1943
JournalNeurology
Volume93
Issue number21
DOIs
StatePublished - Nov 19 2019
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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    Jain, M. S., Meilleur, K., Kim, E., Norato, G., Waite, M., Nelson, L., McGuire, M., Duong, T., Keller, K., Lott, D. J., Glanzman, A., Rose, K., Main, M., Fiorini, C., Chrismer, I., Linton, M., Punjabi, M., Elliott, J., Tounkara, F., ... Bönnemann, C. G. (2019). Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. Neurology, 93(21), E1932-E1943. https://doi.org/10.1212/WNL.0000000000008517