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Updated: Apr 28, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With
Can Ozlu1, Margaret McGurn2, Susan Iannaccone1
1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Insights
The causative gene significantly impacts ventilation and feeding support needs in congenital myopathies and muscular dystrophies. Multiple joint contractures are linked to wheelchair dependence in these rare neuromuscular disorders.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Congenital myopathies (CM) and congenital muscular dystrophies (CMD) are rare neuromuscular disorders with limited data on long-term outcomes.
- Understanding prognostic factors for respiratory, feeding, and ambulatory functions is crucial for patient management.
Purpose of the Study:
- To characterize a large single-center cohort of patients with CM and CMD.
- To identify factors associated with invasive ventilation, feeding tube dependence, and wheelchair dependence.
Main Methods:
- Retrospective review of medical records for 145 patients diagnosed with CM or CMD between 2011 and 2024.
- Collection of genetic, clinical, histopathologic, electrodiagnostic, imaging, and laboratory data.
Main Results:
- The most common genes identified were RYR1, COL6A1/2/3, MTM1, TTN, LAMA2, and NEB.
- 51% of patients over 3 years old were ambulatory, while 23% required invasive ventilation and 34% had a feeding tube.
- Causative gene correlated with ventilation and feeding tube dependence (p<0.001), and multiple joint contractures correlated with wheelchair dependence (p<0.001).
Conclusions:
- The specific causative gene is a primary determinant of the need for respiratory and feeding support in CM and CMD.
- Multiple joint contractures are significantly associated with wheelchair dependence.
- Findings can aid clinicians in counseling families, but further multicenter studies are needed to confirm these prognostic factors.
Introduction/Aims:
Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single-center cohort of patients with CM and CMD, focusing on long-term outcomes and aiming to identify factors associated with invasive ventilation, feeding tube, and wheelchair dependence.
Methods:
Patients with a diagnosis of CM or CMD evaluated at Children's Health Dallas between 2011 and 2024 were identified using ICD codes and their medical records were reviewed. Genetic, clinical, histopathologic, electrodiagnostic, imaging and laboratory data were collected.
Results:
There were 145 patients, with the most common genes being RYR1 (29), COL6A1/2/3 (16), MTM1 (16), TTN (15), LAMA2 (14), NEB (12). Of 128 patients above 3 years old, 65 (51%) were ambulatory. Thirty-three of 145 (23%) required invasive ventilation and 50 of 145 (34%) had a feeding tube. The causative gene significantly correlated with ventilation (Cramer's V 0.46, moderate effect, p < 0.001) and feeding tube (Cramer's V 0.48, moderate effect, p < 0.001) dependence, whereas contractures in multiple joints correlated with wheelchair dependence across the cohort (Cramer's V 0.58, large effect, p < 0.001).
Discussion:
In this study, the causative gene was the major driver of ventilation and feeding support whereas multiple joint contractures correlated with wheelchair dependence. These results may help guide clinicians in counseling families on respiratory, feeding and ambulatory outcomes; however, prospective multicenter studies are needed to confirm the findings and identify additional prognostic factors.
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