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.
Study Type
OBSERVATIONAL
Enrollment
32
Radboud University Medical Center
Nijmegen, Gelderland, Netherlands
Motor Function Measure
Global motor functioning
Time frame: 2 years
ICH Body functioning: Manual Muscle Testing
Manual Muscle Testing using the 5-point scale of the Medical Research Council.
Time frame: 2 years
ICH Body functioning: 6 Minute Walk test
Walking Distance in 6 minutes.
Time frame: 2 years
ICH Body functioning: Denver II developmental screening test
Developmental level.
Time frame: 2 years
ICH Body functioning: visual acuity
Snellen card
Time frame: 2 years
ICH Body functioning: hearing
Tone- and voice audiometry
Time frame: 2 years
ICH Body functioning: mental functioning
Electro-encephalography performed in clinically suspected epilepsy.
Time frame: 2 years
ICH Body functioning: Pain
Faces scale pain.
Time frame: 2 years
ICH Body functioning: cardiac functioning
12 lead Electrocardiogram.
Time frame: 2 years
ICH Body functioning: respiratory functioning
Upright sitting spirometry measuring vital capacity and forced expiratory volume.
Time frame: 2 years
ICH Body functioning: muscle functions
FSHD-evaluation score, Ricci score.
Time frame: 2 years
ICH Body functioning: ingestion functions
TOMASS-C test.Neuromuscular disease swallowing status scale.
Time frame: 2 years
ICH Body structure: muscle ultrasonography
Quantitative muscle ultrasonography of 20 skeletal muscles.
Time frame: 2 years
ICH Body structure: eye structure
Dilated fundoscopy, optical coherence tomography, slit lamp examination
Time frame: 2 years
ICF: Activities and participation: Kidscreen
Kidscreen-52.
Time frame: 2 years
ICF: Activities and participation: NeuroQol
NeuroQol fatigue domain, qualitative anamnesis.
Time frame: 2 years
ICF: Activities and participation: SEV
SEV questionnaire: social-emotional functioning.
Time frame: 2 years
(Epi)genetic disease-modifying factors
Genetic profiling (DNA and RNA).
Time frame: 2 years
Prevalance estimation
Nationwide recruitment, prevalence estimation.
Time frame: 2 years
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