Minal S Jain1, Katherine Meilleur2, Eunhee Kim2, Gina Norato2, Melissa Waite2, Leslie Nelson2, Michelle McGuire2, Tina Duong2, Katherine Keller2, Donovan J Lott2, Allan Glanzman2, Kristy Rose2, Marion Main2, Courtney Fiorini2, Irene Chrismer2, Melody Linton2, Monal Punjabi2, Jeffrey Elliott2, Fatoumata Tounkara2, Ruhi Vasavada2, Ranjani Logaraj2, Jocelyn Winkert2, Sandra Donkervoort2, Meganne Leach2, Jahannaz Dastgir2, Linda Hynan2, Carmel Nichols2, Elizabeth Hartnett2, Gilberto M Averion2, James C Collins2, Eunice S Kim2, Angela Kokkinis2, Alice Schindler2, Kristen Zukosky2, Robert Fee2, Veronica Hinton2, Payam Mohassel2, Diana Bharucha-Goebel2, Carole Vuillerot2, Peter McGraw2, Mark Barton2, Joseph Fontana2, Anne Rutkowski2, A Reghan Foley2, Carsten G Bönnemann1. 1. From the Rehabilitation Medicine Department (M.S.J., M.W., R.V., R.L., C.N.), Clinical Research Center, Neuromuscular Symptoms Unit (K.M., I.C., M.L., M.P., J.E., F.T., J.W.), Tissue Injury Branch, National Institute of Nursing Research, Clinical Trials Unit (E.K., G.N.) and Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., M.L., E.H., G.M.A., A.K., A.S., K.Z., P.M., D.B.-G., A.R.F., C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, and Pulmonary Branch (M.B., J.F., P.M.), National Heart, Lung, and Blood Institute, NIH, Bethesda, MD; Departments of Physical Therapy (L.N.) and Clinical Sciences (L.H.), University of Texas Southwestern, Dallas; Occupational Therapy and Physical Therapy Department (M. McGuire, J.C.C.), Cincinnati Children's Hospital Medical Center, OH; Pediatric Rehabilitation Medicine Department (T.D.), Children's National Medical Center, Washington, DC; Physical Therapy Department (K.K.), Rady's Children Hospital, San Diego, CA; Department of Physical Therapy (D.J.L.), University of Florida, Gainesville; Physical Therapy Department (A.G.), Children's Hospital of Philadelphia, PA; Paediatric Gait Analysis Laboratory of New South Wales (K.R.), The Children's Hospital at Westmead, Sydney, Australia; Dubowitz Neuromuscular Centre (M. Main), Great Ormond Street Hospital for Children, London, UK; Department of Physical Therapy (C.F.), Kennedy Krieger Institute, Baltimore, MD; G.H. Sergievsky Center and Department of Neurology (R.F., V.H.), Columbia University, New York, NY; Goryeb Children's Hospital (J.D.), Morristown, NJ; CureCMD (E.S.K., A.R.), Torrance, CA; and L'Escale Service Central de MPR pédiatrique (C.V.), Hospices Civils de Lyon, France carsten.bonnemann@nih.gov mjain@cc.nih.gov. 2. From the Rehabilitation Medicine Department (M.S.J., M.W., R.V., R.L., C.N.), Clinical Research Center, Neuromuscular Symptoms Unit (K.M., I.C., M.L., M.P., J.E., F.T., J.W.), Tissue Injury Branch, National Institute of Nursing Research, Clinical Trials Unit (E.K., G.N.) and Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., M.L., E.H., G.M.A., A.K., A.S., K.Z., P.M., D.B.-G., A.R.F., C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, and Pulmonary Branch (M.B., J.F., P.M.), National Heart, Lung, and Blood Institute, NIH, Bethesda, MD; Departments of Physical Therapy (L.N.) and Clinical Sciences (L.H.), University of Texas Southwestern, Dallas; Occupational Therapy and Physical Therapy Department (M. McGuire, J.C.C.), Cincinnati Children's Hospital Medical Center, OH; Pediatric Rehabilitation Medicine Department (T.D.), Children's National Medical Center, Washington, DC; Physical Therapy Department (K.K.), Rady's Children Hospital, San Diego, CA; Department of Physical Therapy (D.J.L.), University of Florida, Gainesville; Physical Therapy Department (A.G.), Children's Hospital of Philadelphia, PA; Paediatric Gait Analysis Laboratory of New South Wales (K.R.), The Children's Hospital at Westmead, Sydney, Australia; Dubowitz Neuromuscular Centre (M. Main), Great Ormond Street Hospital for Children, London, UK; Department of Physical Therapy (C.F.), Kennedy Krieger Institute, Baltimore, MD; G.H. Sergievsky Center and Department of Neurology (R.F., V.H.), Columbia University, New York, NY; Goryeb Children's Hospital (J.D.), Morristown, NJ; CureCMD (E.S.K., A.R.), Torrance, CA; and L'Escale Service Central de MPR pédiatrique (C.V.), Hospices Civils de Lyon, France.
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.
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.
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