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.