Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants
| Autor: | Freja Fornander, Julia R. Dahlqvist, Morten Duno, Nanna S. Poulsen, Tuva Åsatun Solheim, Anne-Sofie Vibæk Eisum, John Vissing, Annarita Ghosh Andersen |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Asymptomatic Gastroenterology dynamometry Blood creatine chemistry.chemical_compound Internal medicine medicine muscle fat infiltration Fat replacement RC346-429 Original Research Muscle mri Dixon MRI business.industry female carriers Dystrophin gene Myoglobin chemistry Neurology Muscle strength muscle strength Neurology (clinical) Neurology. Diseases of the nervous system medicine.symptom dystrophinopathy business |
| Zdroj: | Fornander, F, Solheim, T Å, Eisum, A-S V, Poulsen, N S, Andersen, A G, Dahlqvist, J R, Dunø, M & Vissing, J 2021, ' Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants ', Frontiers in Neurology, vol. 12, 707837 . https://doi.org/10.3389/fneur.2021.707837 Frontiers in Neurology Frontiers in Neurology, Vol 12 (2021) |
| Popis: | Objective: To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic DMD variant, we prospectively examined 53 women, assuming that some of these women—despite of the recessive X-linked inheritance—manifested clinical symptoms.Methods: We performed a cross-sectional observational study using MRI and stationary dynamometry of lower extremities, extracted blood muscle biomarkers, and investigated subjective complaints. Results were compared with 19 healthy women.Results:DMD variant carriers were weaker and had higher fat fractions than controls in all investigated muscle groups (p < 0.02). Fat fractions were 18% in carriers vs. 11% in controls in thighs (p = 0.008), and 15 vs. 11% in calf muscles (p = 0.032). Seventy-two percent had fat fractions deviating from controls by two standard deviations (SDs) in one or more of the 16 investigated muscle groups. On strength testing, 40% of the carriers had results deviating from control muscle strength by two SDs in one or more dynamometry assessments. Forty-three carriers (81%) had either reduced muscle strength (2 SDs from control mean). Thirty of these had subjective symptoms. Blood creatine kinase and myoglobin were elevated in 57% of the carriers.Conclusion: Using quantitative methods, this study shows that both clinically symptomatic and asymptomatic women with pathogenic DMD variants show a high prevalence of muscle affection. Longitudinal studies in female carriers of pathogenic DMD variants are needed to follow the evolution of these changes. |
| Databáze: | OpenAIRE |
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