Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern

  title={Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern},
  author={Hossam Moussa Sakr and Nagia Aly Fahmy and Nermine S. Elsayed and H. Abdulhady and Tamer A. El-Sobky and Amr Saadawy and Christophe B{\'e}roud and Bjarne Udd},
  journal={Neuromuscular Disorders},
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool, and the thigh muscles seem to be the best ones to assess disease progression.
Ambulatory Duchenne Muscular Dystrophy Children: Cross-sectional Correlation between Function, Quantitative Muscle Ultrasound and MRI
Quantitative MUS correlates significantly with clinical/functional assessment tools as MFM and 6MWT, and augments their role in disease-tracking of DMD, and has the potential to act as a substitute to functional assessment tools.


Whole‐body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy
Advances in MRI technology allow for acquisition of rapid, high‐quality, whole‐body imaging in diffuse muscle disease, and this technique offers a promising disease biomarker in FSHD and other muscle diseases.
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
A novel decision algorithm based on muscle fat replacement graded on mWB-MRI that allows diagnosis and differentiation of inherited myopathies presenting with spinal rigidity is presented.
Muscle MRI findings in facioscapulohumeral muscular dystrophy
Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate F SHD natural history and follow-up of the disease.
Merosin-negative congenital muscular dystrophy: Report of five cases
When a patient presents with severe congenital hypotonia, muscle weakness, high serum CPK levels, and white matter abnormalities, should be suspected as MDC1A.
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1 and was associated with longer and more severe disease course.
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
The results indicate that muscular MRI is a powerful tool for differentiating LGMD2I from other forms of autosomal recessive LGMDs and dystrophinopathies.
Semi-quantitative assessment of lower limb MRI in dystrophinopathy
MRI provides a simple, non-invasive means of detecting subtle, subclinical changes in individual muscles that reflects the progression of dystrophinopathy and can provide diagnostic evidence for DMD and support the argument to initiate therapy at earlier ages.
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
The results showed a large variability in both type 2 and type 3 spinal muscular atrophy, with a various degree of proximal to distal gradient, which may help to better understand both natural history and response to new treatments.
Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy
The presence of signs in conjunction with severe affection of the psoas major muscle can serve as a diagnostic tool in BM and the high level of STIR lesions in muscles of BM patients warrants further investigations.