Résumé :
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We give the description of two autosomal dominant with 4q35 linked facioscapuloperoneal muscular dystrophy families in which the patients were re-examined by V.K. after 28 -37 years and the typical changes of the pattern of muscle affections on the different stages of the disease were established and confirmed by muscle CT or MRI. The disease began with initial involvement of the isolated facial muscles or their parts and shoulder girdle muscles and some time later of the anterior tibial muscles. The developed scapuloperoneal phenotype with slight affection of the isolated facial muscles or their parts existed in the clinical picture a very long period. The muscles of the thigh (posterior group, namely), pelvic girdle (gluteus maximus, namely) and biceps brachii (slight weakened) are involved in two probands much later and comparatively less degree then the muscles of the scapulo-peroneal region. The muscle CT and MRI in observed patients showed more often and severe involvement of the tibialis anterior, extensor digitorum longus and extensor hallucis longus, posterior thigh muscles (semimembranosus, long head of biceps femoris and semitendinosus), rectus femoris and some time later of adductors of thighs and gastrocnemius (medial heads) and soleus with sparing of peroneus longus and deep posterior compartment of lower leg, quadriceps, gracilis and sartorius muscles. The radiological muscle pattern does not fully correlate with clinical pattern of muscle weakness. The posterior thigh muscles and quadriceps clinically had a normal strength although the total/severe involvement of some hamstrings and rectus femoris was revealed on MRI and CT study. Thus the clinical, CT and MRI study shows the inaccuracy of the term “facioscapuloperoneal” muscular dystrophy becomes evident. The name “facioscapulolimb muscular dystrophy, type 2 (FSLD2), a descending with a “jump” with initial FSP phenotype” instead the name facio-scapulo-peroneal muscular dystrophy would be more correct.
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