Key result
Merosin-deficient congenital muscular dystrophy was associated with a distinct pattern of muscle fatty infiltration, including significantly greater involvement of the neck, serratus anterior, forearm, gluteal, and calf muscles compared to other hereditary muscle diseases (p<0.01).
Why the study?
Merosin-deficient or LAMA2-related congenital muscular dystrophy belongs to a group of muscle diseases with an overlapping diagnostic spectrum, and the study aimed to analyze the pattern of muscle involvement using whole-body muscle MRI.
Does whole-body muscle MRI identify a characteristic pattern of muscle involvement in children with merosin-deficient congenital muscular dystrophy compared to other hereditary muscle diseases?
Case-Control (n=23)
No
Does whole-body muscle MRI identify a characteristic pattern of muscle involvement in children with merosin-deficient congenital muscular dystrophy compared to other hereditary muscle diseases?
p-value: p=<0.01
Whole-body muscle MRI reveals a characteristic pattern of muscle fatty infiltration in children with merosin-deficient congenital muscular dystrophy, which can aid in its differential diagnosis from other hereditary muscle diseases.
Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. We used a control group of other hereditary muscle diseases, which included 13 children. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al 2008. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differed from that in control group. There was a highly statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, rotator cuff, deltoid, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of merosin deficient CMD. Study Highlights Whole-body muscle MRI is a useful contributor to the differential diagnosis of merosin-deficient (LAMA2-related) congenital muscular dystrophy. The study demonstrated the presence of a fairly characteristic pattern of whole-body muscle MRI in children with merosin-deficient CMD in terms of sensitivity and specificity. The study may be considered as a preliminary step of arriving at an MRI classification system for children with merosin-deficient CMD.
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Sakr et al. (2021) conducted a case-control in Merosin-deficient congenital muscular dystrophy (LAMA2-related CMD) (n=23). Merosin-deficient congenital muscular dystrophy (LAMA2 mutation) vs. Other hereditary muscle diseases was evaluated on Pattern and extent of muscle fatty infiltration graded using the modified Mercuri scale (p=<0.01). Merosin-deficient congenital muscular dystrophy was associated with a distinct pattern of muscle fatty infiltration, including significantly greater involvement of the neck, serratus anterior, forearm, gluteal, and calf muscles compared to other hereditary muscle diseases (p<0.01).
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