Facioscapulohumeral Dystrophy in Children

FSHD is a hereditary muscle disease with slowly progressive muscle weakness. In children it is a very heterogenic disease ranging from severely affected infants to mildly affected adolescents. Symptoms can include muscle weakness, pain, fatigue, epilepsy, hearing loss, vision loss, mental retardation and spinal deformities. The prevalence of these symptoms and the adequate follow-up of these symptoms is unknown. Moreover the clinical impact and social functioning of children with FSHD is under exposed. Therefore this study will focus on the total spectrum of FSHD in children. In addition, an extensive genetic screening will be conducted, searching for (epi)genetic disease modifiers and severity predictors.