P.306Multicentric MRI study in a cohort of FSHD2 patients: pattern definition and differences between FSHD1 and FSHD2

Aim of this multicenter study was to define the radiological features of facioscapulohumeral muscular dystrophy type 2 (FSHD2), the similarities or differences with FSHD1, and to explore correlations with molecular data in order to improve knowledge about this rare disorder. Muscle MRI scans of 34 molecularly confirmed FSHD2 patients from 9 European neuromuscular centers were analyzed, to assess the pattern of involvement and the extent of fatty replacement and muscle oedema. The most frequently affected muscles were the abdominals, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research