An Egyptian team performed a retrospective study of whole body MRI in 10 children with LAMA2 deficiency, an average of 10.3 years old (+/- 2.8 years).
The topography of the muscular impairment of I deficiency on MRI appears to be significantly different from that found in other genetic muscle diseases having served as control (titinopathy, facioscapulohumeral myopathy, sarcoglycanopathy, muscular dystrophy of the girdles, deficiency in collagen VI):
- in the upper limbs, selective involvement of the deltoid muscles, the rotator cuff, the triceps brachii and the muscles of the forearm, with respect to the anterior brachialis and biceps brachii muscles;
- in the lower limbs, it is the glutes (large and medium) as well as the soleus and the gastrocnemius which are particularly affected, while the sartorius, the gracilis, the semi-tendinus and the ankle extensors are spared;
- in the trunk, the serratus anterior, the erectors of the spine and the intercostal muscles are also preferentially affected with a relative sparing of the pectoralis major.
Longitudinal studies are still needed to identify the progressive pattern of muscle involvement in congenital muscular dystrophy due to LAMA2 deficiency.
