scholarly journals The role of magnetic resonance imaging of muscles in the differential diagnosis of certain forms and subtypes of limb-girdle muscular dystrophy: case analysis

2021 ◽  
Vol 16 (8) ◽  
pp. 43-47
Author(s):  
H.V. Palahuta ◽  
O.Ye. Fartushna
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Correct Diagnosis ◽  
Integrated Approach ◽  
Limb Girdle Muscular Dystrophy ◽  
Resonance Imaging ◽  
Laboratory Methods ◽  
Progressive Muscular Dystrophy

Limb-girdle muscular dystrophy is a genetically heterogeneous group of disorders that are characterized by slowly progressing muscle weakness and presents a diagnostic problem in the neurological practice. The combination of clinical, radiological, and laboratory methods of examination plays an important role in referring the patient to genetic counseling and making the correct diagnosis. Magnetic resonance imaging of muscles is increasingly used to give clues in the primary muscle damage diagnosis, based on specific patterns of muscle lesion. The article provides two clinical cases as an example of an integrated approach to the diagnosis of progressive muscular dystrophy using genetic analysis and magnetic resonance imaging of muscles

scholarly journals Oedema-fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging

2017 ◽  
Vol 47 (12) ◽  
pp. e12843 ◽  
Author(s):  
Sophie Mavrogeni ◽  
Antigoni Papavasiliou ◽  
Katerina Giannakopoulou ◽  
George Markousis-Mavrogenis ◽  
Maria Roser Pons ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cardiovascular Magnetic Resonance ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Cardiovascular Magnetic Resonance Imaging ◽  
Resonance Imaging

Spin-Lock Magnetic Resonance Imaging of Muscle in Patients With Autosomal Recessive Limb Girdle Muscular Dystrophy

2000 ◽  
Vol 10 (2) ◽  
pp. 73-77 ◽  
Author(s):  
Malgorzata B Franczak ◽  
John L Ulmer ◽  
Safwan Jaradeh ◽  
James D McDaniel ◽  
Leighton P Mark ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Limb Girdle Muscular Dystrophy ◽  
Resonance Imaging ◽  
Spin Lock

scholarly journals Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Zhiying Xie ◽  
Jiangxi Xiao ◽  
Yiming Zheng ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Muscle Tissue ◽  
Founder Mutation ◽  
Fatty Infiltration ◽  
Limb Girdle Muscular Dystrophy ◽  
Resonance Imaging ◽  
Thigh Muscles ◽  
Vastus Intermedius

Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (FKRP). The aim of this study was to determine if there are any characteristic features of muscle on magnetic resonance imaging (MRI) in patients with LGMD2I harboring the founder mutation c.545A>G in FKRP. Using MRI, we delineated changes in the thigh muscles of ten patients with genetically confirmed LGMD2I. The majority of muscle biopsy specimens showed reduced glycosylation of α-dystroglycan, decreased expression of laminin α2, and a dystrophic pattern. In our cohort, the muscles with the most severe fatty infiltration were adductor magnus and vastus intermedius, whereas the rectus femoris, sartorius, and gracilis muscles were relatively spared. In seven patients, we identified a concentric fatty infiltration pattern that was most pronounced in the vastus intermedius and vastus medialis muscles around the distal femoral diaphysis. In this disease, the initial fatty infiltration of the posterior thigh muscles gradually progresses anteriorly regardless of the founder mutation in FKRP. Muscle tissue in patients with LGMD2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI.

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