On nosological place of facioscapuloperoneal (or facioscapulolimb, type 2) 4q35-linked muscular dystrophy

We observed the pattern of muscle weakness in 28 patients from 13 families with 4q35-linked EcoRI/BlnI DNA fragment size 13-30 kb facioscapuloperoneal muscular dystrophy (FSPMD) Thirteen patients (8 men and 5 women) from these families were reexamined by V.K. after a period ranging from 27 to 49 years. In the first examination the following phenotypes of muscle weakness were found: a) facio(scapular) [F(S)] (3 patients); b) (facio)scapular [(F)S] (1); c) facioscapular (FS) (1); d) (facio)scapuloperoneal [(F)SP] (5); e) (fa-cio)scapuloperoneal-(femoral) [(F)SP(F)] (1); f) scapu-loperoneal (SP) (1); g) facio-scapulo-peroneal-(humeral) [FSP(H)] (1) (see appendix for legenda of phenotypes). On re-examination after 27-49 years, the following phenotypes were observed: a) facio-scapulo-pero-neal-femoro (posterior thigh muscles)-gluteo (gluteus maximus) (FSPFG) (3 patients); b) facio-scapulo-pe-roneal-femoro (posterior thigh muscles)-gluteo (gluteus maximus)-(humeral; biceps brachii) [FSPFG(H)] (4 patients); c) facio-scapulo-peroneal-humero (biceps brachii)-femoral (posterior thigh muscles)-gluteal (gluteus maxi-mus) (FSPHFG) (2 patients); d) (facio)scapuloperoneal [(F)SP)] (2 patients); e) facioscapuloperoneal (FSP) (1 patient) and f) facioscapuloperoneal-(femoral) [FSP(F)] (1 patient). Thus, in 9 patients the phenotype of muscle weakness was changed in FSPFG or FSPFG(H) phenotypes (7 patients) and in FSPHFG phenotype – where the biceps brachii muscles were severely affected following the involvement of tibialis anterior muscles (2 patients). However in all 9 patients, the interscapular and peroneal group muscles were more severely affected than posterior group of thigh and gluteus maximus muscles. Three patients (F2, III-10, aged 73 and VI-8, aged 42; F8, III-25, aged 55) on re-examination after 37, 36 and 27 years respectively, remain in pure facioscapuloperoneal phenotype while in 1 patient (F8, VI-17)-after 36 years-the FSP phenotype predominated but with a slight involvement of posterior thigh muscles. In 2 patients from F2 showing clinical pure FSP phenotype, a severe involvement of some posterior thigh muscles and rectus femoris was found on MRI of lower limbs. Thus, in all reported patients, the disease began with initial involvement of the face (in minimal/slight degree) and shoulder girdle muscles and sometime later with the involvement of the peroneal group (anterior tib-ial) muscles. However, the dystrophic process gradually extended to the thigh muscles (posterior group, namely; the quadriceps were preserved in 13/28 patients), pelvic girdle muscles (gluteus maximus, namely; the gluteus medius were preserved in 13/28 patients) but not always on upper arm muscles (biceps brachii, namely; slightly weakened on the one side in 4/13 patients; in two patients these muscles were severe affected). The present clinical and MRI data, as well as our …