The aim of this study is to describe and correlate the clinical and MRI data in facio-scapulo-limb, type 2 (FSLD2) (the same as a facioscapuloperoneal or a FSHD1) family members. We studied 17 FSLD2 patients (10 men and 7 women, 17-73 years old; mean age 40 ± 3.7) from 12 families with 4q35 p13E11 EcoRI/ BlnI deletion 13-28 kb. Five patients were presymptomatic (Pr) and 12 were symptomatic. MRI of 20 muscles bilaterally in observed patients was performed on a 1.5-tesla Siemens Magneton Vision system using axial T1 and T2 weighted images.

MRI study of Pr patients did not show any definite pathological changes of the lower limb muscles. In symptomatic patients more often and severe were involvement of anterior compartment of the lower leg muscles, posterior thigh muscles, rectus femoris and sometime later the adductors of thigh and gastrocnemius (medial head) muscles with relative sparing especially of quadriceps (vastus lateralis, medialis and intermedius) and peroneus longus muscles and a lesser degree of gracilis, sartorius, gastrocnemius (lateral head) and soleus muscles and with complete sparing of the deep posterior compartment of the lower leg muscles. MRI may disclose early selective involvement of some posterior thigh and lower leg muscles that could not be detected by manual muscle strength testing in the patients with clinical pure facioscapuloperoneal phenotype. MRI findings there were not correlated (p > 0.05) with DNA fragment size, age, disease severity and disease duration, daily life work disab.ility and myogenic phenotype. It is quite probably that the FSLD2 is a special type of muscular dystrophy.

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