Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article 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 ( < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% ( < 0.05) and 2.55% ( < 0.01). Range-of-motion measurements decreased by 3.21° ( < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° ( < 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% ( < 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885579 | PMC |
| http://dx.doi.org/10.1212/WNL.0000000000008517 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
Neurol Sci
August 2025
Children's Hospital of Fudan University, Shanghai, China.
Background: Collagen VI-related disorder (COL6-RD) is an inherited neuromuscular disease characterized by a broad spectrum of phenotypes.
Patients And Methods: Eight families with autosomal dominant COL6-RD were recruited. Clinical manifestations, laboratory findings, electrophysiological results, molecular analyses, and pathological outcomes of eight index patients and their affected family members were systematically collected and reviewed.
The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
March 2024
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Article Synopsis
- Collagen VI-related dystrophies (COL6-RDs) include a range of conditions such as Ullrich congenital muscular dystrophy (UCMD), which features severe muscle weakness and respiratory issues, and Bethlem muscular dystrophy, which has milder and later-presenting symptoms.
- Some patients with symptoms typical of COL6-RDs were previously undiagnosed until a deep intronic variant in COL6A1 was identified, leading to a severe form of UCMD in a cohort of 44 patients, except for one with a milder phenotype.
- The study suggests that a new pseudoexon skipping therapy could effectively reduce the severity of UCMD symptoms by targeting the abnormal transcripts
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Neurology
March 2021
From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurog
Objective: To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to 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 United States (n = 65).
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study.
J Neuromuscul Dis
July 2021
Department of Physiology and Functional Genomics, University of Florida, Gainesville, Florida, USA.
Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD) cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in the COL6 genes (COL6A1, COL6A2 and COL6A3) encoding the extracellular matrix protein collagen VI, and DMD is caused by mutations in the DMD gene encoding the cytoplasmic protein dystrophin. Both COL6-RDs and DMD are characterized by infiltration of the muscles by fatty and fibrotic tissue.
View Article and Find Full Text PDF