第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文（133）

Xie ZY1， Yu M1， Wang ZX1， Zhang W1， Xiong H2， Yuan Y1

1Department of Neurology， Peking University First Hospital， Beijing

2Department of Pediatrics， Peking University First Hospital， Beijing

The aims of this study were to determine the differential value of muscle magnetic resonance imaging (MRI) in differentiating different dystrophin-glycoprotein complex (DGC)-related muscular dystrophies， and to characterize the pattern of involvement on muscle MRI in Chinese patients with sarcoglycanopathies.

Methods: Fifty-five patients with DGC-related muscular dystrophies participated in this study， including 22 confirmed to have sarcoglycanopathies， 11 to have dystroglycanopathy， and 22 to have dystrophinopathies. Extensive clinical evaluation， muscle biopsies， genetic analysis， and muscle MRI examinations were performed in all patients. Muscle involvement was evaluated on T1-weighted images， and the distinctive patterns were assessed as well. Hierarchical clustering was used to assess the value of clinical phenotypes or muscle MRI in the differential diagnosis of DGC-related muscular dystrophies.

Results: Hierarchical clustering of patients according to the clinical characteristics showed that patients did not cluster depending on the genotypes. No statistically significant differences could be found between sarcoglycanopathies and dystroglycanopathy. The concentric fatty infiltration pattern was observed not only in different sarcoglycanopathies (14/22) but also in dystroglycanopathy (9/11). The trefoil with single fruit sign was observed in most patients with dystrophinopathies (21/22)， and a few patients with sarcoglycanopathies (4/22) or dystroglycanopathy (2/11). Hierarchical clustering showed that most patients with sarcoglycanopathies or dystroglycanopathy can be distinguished from dystrophinopathies by muscle MRI depending on the concentric fatty infiltration pattern and trefoil with single fruit sign.

Conclusions: Muscle MRI is a potential imaging marker for distinguishing sarcoglycanopathies or dystroglycanopathy from dystrophinopathies.