OBJECTIVE: Therapeutic perspectives have brought attention to the development of instruments to accurately evaluate the degree of pathology in patients with facioscapulohumeral muscular dystrophy. We aimed to analyze the type and extent of muscle involvement on magnetic resonance imaging (MRI) in a large cohort of patients representative of the broad clinical spectrum of this disease. METHODS: Pelvic and lower limb muscle MRI scans of 269 symptomatic individuals and 19 nonpenetrant gene carriers were assessed. Comparative analysis of the upper girdle scan in 181 of these subjects was also performed. RESULTS: We found a peculiar susceptibility and resistance of particular muscles. Combined involvement of abdominal and hamstring muscles with iliopsoas sparing is common in facioscapulohumeral muscular dystrophy (67% of the patients). Adductor longus and/or rectus femoris, whose involvement can go clinically undetected, are often typically affected in early disease (69% of patients younger than 45 years). The extent of lesions on lower limb MRI showed a high correlation with overall clinical severity. One-fourth of the nonpenetrant gene carriers showed abnormalities on MRI. Hyperintensities on short-tau inversion recovery sequences, markers of active disease, were found in muscles without signs of fatty replacement in 35% of patients, representing early lesions. INTERPRETATION: Our large-scale cross-sectional data provide preliminary evidence for the usefulness of MRI in clinical trials, and set the baseline for longitudinal studies. Muscle MRI can also be used for distinguishing facioscapulohumeral muscular dystrophy from other myopathies in selected cases. Finally, our results are consistent with a model that configures facioscapulohumeral muscular dystrophy as a "muscle-by-muscle" disease. Ann Neurol 2016;79:854-864.
OBJECTIVE: Therapeutic perspectives have brought attention to the development of instruments to accurately evaluate the degree of pathology in patients with facioscapulohumeral muscular dystrophy. We aimed to analyze the type and extent of muscle involvement on magnetic resonance imaging (MRI) in a large cohort of patients representative of the broad clinical spectrum of this disease. METHODS: Pelvic and lower limb muscle MRI scans of 269 symptomatic individuals and 19 nonpenetrant gene carriers were assessed. Comparative analysis of the upper girdle scan in 181 of these subjects was also performed. RESULTS: We found a peculiar susceptibility and resistance of particular muscles. Combined involvement of abdominal and hamstring muscles with iliopsoas sparing is common in facioscapulohumeral muscular dystrophy (67% of the patients). Adductor longus and/or rectus femoris, whose involvement can go clinically undetected, are often typically affected in early disease (69% of patients younger than 45 years). The extent of lesions on lower limb MRI showed a high correlation with overall clinical severity. One-fourth of the nonpenetrant gene carriers showed abnormalities on MRI. Hyperintensities on short-tau inversion recovery sequences, markers of active disease, were found in muscles without signs of fatty replacement in 35% of patients, representing early lesions. INTERPRETATION: Our large-scale cross-sectional data provide preliminary evidence for the usefulness of MRI in clinical trials, and set the baseline for longitudinal studies. Muscle MRI can also be used for distinguishing facioscapulohumeral muscular dystrophy from other myopathies in selected cases. Finally, our results are consistent with a model that configures facioscapulohumeral muscular dystrophy as a "muscle-by-muscle" disease. Ann Neurol 2016;79:854-864.
Authors: Karlien Mul; Sanne C C Vincenten; Nicol C Voermans; Richard J L F Lemmers; Patrick J van der Vliet; Silvère M van der Maarel; George W Padberg; Corinne G C Horlings; Baziel G M van Engelen Journal: Neurology Date: 2017-10-13 Impact factor: 9.910
Authors: Laís Uyeda Aivazoglou; Julio Brandão Guimarães; Thomas M Link; Maria Alice Freitas Costa; Fabiano Nassar Cardoso; Bruno de Mattos Lombardi Badia; Igor Braga Farias; Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira; Alzira Alves de Siqueira Carvalho; André Yui Aihara; Artur da Rocha Corrêa Fernandes Journal: Eur Radiol Date: 2021-04-21 Impact factor: 5.315
Authors: Katy Eichinger; Chad Heatwole; Stanley Iyadurai; Wendy King; Lindsay Baker; Susanne Heininger; Amy Bartlett; Nuran Dilek; William B Martens; Michael Mcdermott; John T Kissel; Rabi Tawil; Jeffrey M Statland Journal: Muscle Nerve Date: 2018-01-30 Impact factor: 3.217