Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments
Autor: | Sofie T. Oestergaard, John Vissing, Julia R. Dahlqvist, Nanna S. Poulsen, Carsten Thomsen |
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Rok vydání: | 2019 |
Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Urology Walk Test Bulbo-Spinal Atrophy X-Linked Thigh 03 medical and health sciences 0302 clinical medicine Atrophy Forearm Disease severity medicine Humans Muscle Strength Muscle Skeletal Aged Leg medicine.diagnostic_test business.industry Back Muscles Case-control study Magnetic resonance imaging Middle Aged medicine.disease Magnetic Resonance Imaging Phenotype 030104 developmental biology medicine.anatomical_structure Adipose Tissue Walk test Case-Control Studies Arm Muscle strength Neurology (clinical) business 030217 neurology & neurosurgery |
Zdroj: | Neurology. 92:e548-e559 |
ISSN: | 1526-632X 0028-3878 |
Popis: | ObjectiveTo investigate the phenotypic features, with emphasis on muscle, in 40 patients with spinobulbar muscular atrophy (SBMA) using quantitative MRI, stationary dynamometry, questionnaires, and functional tests.MethodsPatients with genetically confirmed SBMA were included. MRI was used to describe muscle involvement and quantify muscle fat fractions of arm, back, and leg muscles. Muscle strength was assessed with a stationary dynamometer. All patients were evaluated with the SBMA functional rating scale and the 6-minute walk test among others. MRI and muscle strength results were compared with healthy controls.ResultsForty patients with SBMA were included. The muscle fat content was significantly higher in patients with SBMA than in controls: paraspinal fat fraction was 45% vs 33% in controls, thigh fat fraction 36% vs 14%, calf fat fraction 37% vs 15%, upper arm fat fraction 20% vs 8%, and forearm fat fraction was 20% vs 9%. Muscle strength in patients was reduced to approximately half of that in controls in all muscles. Muscle fat content correlated with muscle strength, SBMA functional rating scale score, and 6-minute walk test distance.ConclusionsOur results show that there is a diffuse muscle involvement pattern in SBMA. Leg muscles are more vulnerable than arm muscles, especially the posterior flexor muscles. The muscle fat content correlates with muscle function and disease severity. |
Databáze: | OpenAIRE |
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