Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2).

Despite advances in research on the subject, answers are still needed on these diseases.

We also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD.

This study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management

Inclusion Criteria:

• age ≥ 18 years and <75 years
• FSHD patients 1 or 2 with or without genetic confirmation

Exclusion Criteria:

- Patient with all conditions considered by the investigator interfering with the proper conduct of the study.