Muscle MRI findings in facioscapulohumeral muscular dystrophy
| Autor: | Lucia Morandi, Lorenzo Maggi, Giandomenico Caliendo, Barbara Pasanisi, Simonetta Gerevini, Stefano C. Previtali, Andrea Falini, Mariangela Cava, Marina Scarlato |
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| Přispěvatelé: | Gerevini, S, Scarlato, M, Maggi, L, Cava, M, Caliendo, G, Pasanisi, B, Falini, Andrea, Previtali, Sc, Morandi, L. |
| Rok vydání: | 2016 |
| Předmět: |
musculoskeletal diseases
Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Adolescent Subcutaneous Fat Intermediate Back Muscles Muscle disorder Muscular Dystrophies 030218 nuclear medicine & medical imaging Diagnosis Differential 03 medical and health sciences Young Adult 0302 clinical medicine Atrophy medicine Facioscapulohumeral muscular dystrophy Edema Humans Radiology Nuclear Medicine and imaging Whole Body Imaging Muscular dystrophy Muscle Skeletal Muscle contracture Aged Muscle Weakness medicine.diagnostic_test business.industry Muscle weakness Magnetic resonance imaging General Medicine Middle Aged medicine.disease Magnetic Resonance Imaging Muscular Dystrophy Facioscapulohumeral nervous system diseases Adipose Tissue Lower Extremity Superficial Back Muscles Female Radiology medicine.symptom business 030217 neurology & neurosurgery |
| Popis: | Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. • Muscle MRI identifies a specific pattern of muscle involvement in FSHD patients. • Muscle MRI may predict FSHD in asymptomatic and severely affected patients. • Muscle MRI of upper girdle better predicts FSHD. • Muscle MRI may differentiate FSHD from other forms of muscular dystrophy. • Muscle MRI may show the involvement of non-clinical testable muscles. |
| Databáze: | OpenAIRE |
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