Facioscapulohumeral Muscular Dystrophy, Neurological Observations, Pediatric Disorder
Conditions
Keywords
muscular dystrophy, natural history, genetic profilling
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Leiden University Medical Center
Princess Beatrix Muscle Foundation
University Medical Center Nijmegen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 17 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Motor Function Measure | 2 years | Global motor functioning |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| ICH Body functioning: 6 Minute Walk test | 2 years | Walking Distance in 6 minutes. |
| ICH Body functioning: Denver II developmental screening test | 2 years | Developmental level. |
| ICH Body functioning: visual acuity | 2 years | Snellen card |
| ICH Body functioning: hearing | 2 years | Tone- and voice audiometry |
| ICH Body functioning: mental functioning | 2 years | Electro-encephalography performed in clinically suspected epilepsy. |
| ICH Body functioning: Pain | 2 years | Faces scale pain. |
| ICH Body functioning: cardiac functioning | 2 years | 12 lead Electrocardiogram. |
| ICH Body functioning: respiratory functioning | 2 years | Upright sitting spirometry measuring vital capacity and forced expiratory volume. |
| ICH Body functioning: Manual Muscle Testing | 2 years | Manual Muscle Testing using the 5-point scale of the Medical Research Council. |
| ICH Body functioning: ingestion functions | 2 years | TOMASS-C test.Neuromuscular disease swallowing status scale. |
| ICH Body structure: muscle ultrasonography | 2 years | Quantitative muscle ultrasonography of 20 skeletal muscles. |
| ICH Body structure: eye structure | 2 years | Dilated fundoscopy, optical coherence tomography, slit lamp examination |
| ICF: Activities and participation: Kidscreen | 2 years | Kidscreen-52. |
| ICF: Activities and participation: NeuroQol | 2 years | NeuroQol fatigue domain, qualitative anamnesis. |
| ICF: Activities and participation: SEV | 2 years | SEV questionnaire: social-emotional functioning. |
| (Epi)genetic disease-modifying factors | 2 years | Genetic profiling (DNA and RNA). |
| Prevalance estimation | 2 years | Nationwide recruitment, prevalence estimation. |
| ICH Body functioning: muscle functions | 2 years | FSHD-evaluation score, Ricci score. |
Countries
Netherlands
Outcome results
None listed