Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy
| Autor: | Ronald M. Summers, William A. Gahl, Ronald Ouwerkerk, Chia-Ying Liu, Joseph A. Shrader, Jianhua Yao, Nuria Carrillo, Ami Mankodi, Galen O. Joe, William Kovacs |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Proton Magnetic Resonance Spectroscopy Hamstring Muscles Walk Test Thigh Severity of Illness Index Article Quadriceps Muscle Young Adult 03 medical and health sciences 0302 clinical medicine Disease severity Multienzyme Complexes Humans Medicine Muscle Strength Patient Reported Outcome Measures 030212 general & internal medicine Muscle Skeletal Myopathy Aged Leg medicine.diagnostic_test business.industry Skeletal muscle Magnetic resonance imaging Organ Size GNE MYOPATHY Middle Aged Lipid Metabolism medicine.disease Lipids Magnetic Resonance Imaging Hyperintensity Distal Myopathies medicine.anatomical_structure Disease Progression Female Neurology (clinical) Inclusion body myositis medicine.symptom business Nuclear medicine 030217 neurology & neurosurgery |
| Zdroj: | Neurology |
| ISSN: | 1526-632X 0028-3878 0141-7533 |
| Popis: | ObjectiveTo characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).MethodsSkeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and short tau inversion recovery (STIR) images, T1 and T2 mapping, and 1H-MRS. Measures evaluated included longitudinal relaxation time (T1), transverse relaxation time (T2), and 1H-MRS fat fraction (FF). Thigh muscle volume was correlated with relevant measures of strength, function, and patient-reported outcomes.ResultsThe cohort was representative of a wide range of disease progression. Contractile thigh muscle volume ranged from 5.51% to 62.95% and correlated with thigh strength (r = 0.91), the 6-minute walk test (r = 0.82), the adult myopathy assessment tool (r = 0.83), the activities-specific balance confidence scale (r = 0.65), and the inclusion body myositis functional rating scale (r = 0.62). Four stages of muscle involvement were distinguished by qualitative (T1W and STIR images) and quantitative methods: stage I: unaffected muscle (T1 = 1,033 ± 74.2 ms, T2 = 40.0 ± 1.9 ms, FF = 7.4 ± 3.5%); stage II: STIR hyperintense muscle with minimal or no fat infiltration (T1 = 1,305 ± 147 ms, T2 = 50.2 ± 3.5 ms, FF = 27.6 ± 12.7%); stage III: fat infiltration and STIR hyperintensity (T1 = 1,209 ± 348 ms, T2 = 73.3 ± 12.6 ms, FF = 57.5 ± 10.6%); and stage IV: complete fat replacement (T1 = 318 ± 39.9 ms, T2 = 114 ± 21.2 ms, FF = 85.6 ± 4.2%). 1H-MRS showed a significant decrease in intramyocellular lipid and trimethylamines between stage I and II, suggesting altered muscle metabolism at early stages.ConclusionMRI biomarkers can monitor muscle involvement and determine disease severity noninvasively in patients with GNE myopathy.ClinicalTrials.gov IdentifierNCT01417533. |
| Databáze: | OpenAIRE |
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