LAUSR

Facioscapulohumeral muscular dystrophy type 1 is the third most common inherited myopathy. Its severity is proportionate to the loss of microsatellite D4Z4 repetitions, which are below 10. Patients suffer from weakness in facial muscles, shoulder girdles and ankle dorsiflexors. Trunk impairment is reported in few studies. To assess correlation between D4Z4 number of repetitions in facioscapulohumeral muscular dystrophy type 1 patients and trunk extensors and flexors isokinetic peak torque, 48 patients with southern Blot confirmed facioscapulohumeral muscular dystrophy type 1 were enrolled to perform clinical evaluation (Ricci's Clinical Severity Scoring, Berg Balance Scale, Functional Reach Test, timed up-and-go test, six-minute walk test, functional independence measure) and trunk isokinetic assessment. Trunk extensors and flexors isokinetic peak torque at 60°/sec were significantly correlated with number of D4Z4 microsatellite repetitions, sex, weight and age-independent (r = 0.391 [0.121; 0.662], p < 0.006 and r = 0.334 [0.028; 0.641], p < 0.033, respectively). Ricci's Clinical Severity Scoring was significantly correlated to trunk extensors isokinetic peak torque at 60°/sec, sex and weight-independent (r = -0.743 [-0.938; -0.548], p < 0.0001). This study demonstrates moderate correlation between pathologic compression of D4Z4 microsatellite array and trunk extensors isokinetic strength among facioscapulohumeral muscular dystrophy type I patients.