Key result
Among 118 female carriers of Duchenne muscular dystrophy, 10 (8.4%) were symptomatic, frequently exhibiting asymmetrical muscle weakness (7 of 10 patients) and compensatory movements.
Why the study?
Female Duchenne muscular dystrophy carriers rarely show muscle weakness and cardiomyopathy, and early identification of functional and motor impairments may guide clinical decision making.
Population
10 female patients with dystrophinopathy who were symptomatic carriers of DMD mutations
Design
Descriptive study
Authors
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Symptomatic female DMD carriers may show asymmetrical weakness affecting function; this case series leaves open the need for larger studies.
Observational (n=118)
Symptomatic female carriers of DMD mutations frequently present with asymmetrical muscle weakness and compensatory movements that adversely affect posture and functional performance.
Silva et al. (2020) conducted an observational in Duchenne muscular dystrophy (n=118). DMD mutation carrier status was evaluated on Muscular strength and functional performance. Among 118 female carriers of Duchenne muscular dystrophy, 10 (8.4%) were symptomatic, frequently exhibiting asymmetrical muscle weakness (7 of 10 patients) and compensatory movements.
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