Italian National Registry for Facioscapulohumeral Muscular Dystrophy

A National Italian Registry for Facioscapulohumeral Muscular Dystrophy (FSHD)

Facio-scapulo-humeral muscular dystrophy (FSHD) is among the most common hereditary muscle diseases. It affects the musculature of the face and then extends to the musculature of the scapula, and to the abdominal musculature. For these reasons patients are unable to raise their arms and take incorrect positions in the spine. Furthermore, due to the weakness of the pelvis muscles, 20% of patients lose the ability to walk independently. FSHD has been associated with a reduced number of repeated DNA sequences that are found on the long arms of chromosome n. 4. DNA analysis allows to identify all the carriers of the molecular defect. However, the disease can affect the carriers of the molecular defect in a very variable and unpredictable way: in the same family it is possible to observe people in wheelchairs and people who show no signs of illness. This makes prognosis very difficult and, consequently, it can affect the reproductive choices of the carriers of the genetic mutation. This research will allow us to study in detail the families and sporadic cases in which the typical molecular defect of FSHD has been identified and to re-evaluate all the cases, in which, despite the presence of a typical clinical picture of FSHD, it has not been identified the genetic defect. Thanks to this project we have created the national register of FSHD patients and we are collecting a number of affected subjects or carriers of the mutation associated with the FSHD representative of the Italian population. We expect to acquire elements that can help predict the development of the disease in a subject affected by FSHD. Furthermore we will analyze a large number of clinically affected subjects with FSHD in which it was not possible to identify the “canonical” mutation. The study of these patients should help us understand the mechanisms involved in the onset of the disease.