Facioscapulohumeral Dystrophy in Children
Facioscapulohumeral Dystrophy in Children
This study will focus on the symptoms, natural history and clinical impact of
 facioscapulohumeral muscular dystrophy (FSHD) in children.

 Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients
 have an early, childhood onset. This early onset is associated with faster progression and
 other symptoms like hearing loss and epilepsy.

 The symptoms, natural history and clinical impact of FSHD in children are largely unknown.

 The results of this study will be vital for adequate symptomatic management and
 trial-readiness.
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.
Inclusion Criteria:

 -  aged 0-17 years

 -  symptoms of facial, scapulohumeral or peroneal weakness

 -  genetically proven FSHD1 or FSHD2

 -  living in the Netherlands

 Exclusion Criteria:

 -  no informed consent