A National Italian Registry for Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapular muscular distrophy (FSHD) is the most common hereditary muscular disorders. It affects the muscles of the face and then spread to the muscles of the scapula, and abdominal muscles. For these reasons patients fail to raise their arms and taking incorrect positions of the spinal column. Also, because of the weakness of the muscles of the pelvis, 20% of patients lose the ability to walk independently. FSHD has been associated with a reduced number of repeated DNA sequences that are located on the long arms of chromosome n. 4. DNA analysis allows to identify all the subjects with the molecular defect. However, the disease can affect the carriers of the molecular defect in a very variable and unpredictable in the same family can be seen people in wheelchairs and people who show no signs of the disease. This makes it very difficult prognosis and, consequently, may affect the reproductive choices of carriers of the genetic mutation. This research will allow us to study in detail the families and sporadic cases in which there is an identified molecular defect typical of FSHD and to re-evaluate all cases, in which, despite the presence of a typical clinical picture of FSHD, went undetected the genetic defect. Through this project we created the National Registry of FSHD patients and we are collecting a number of patients or carriers of the mutation associated with FSHD representative of the Italian population. We expect to acquire items that can help predict the development of the disease in a person affected by FSHD. Also we analyze a large number of individuals clinically affected with FSHD in which it was not possible to identify the mutation “canonical”. The study of these patients should help us to understand the mechanisms involved in the onset of the disease.