FSHD Landouzy-Dejerine
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Sint Radboud
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: - Patients aged 0-17 with genetically proven FSHD1 (mutation on chromosome 4q35, leading to a reduced number of less than 10 D4Z4 subunits) or FSHD2 (SMCHD1 gene mutation on chromosome 18) - Patients aged 0-17 with a clinical suspicion of FSHD. The clinical suspicion is defined as: based on the opinion of the treating medical specialist (paediatricians or neurologists) or children with delayed motor development with clinical weakness of the facial or upper-arm muscle.
Exclusion criteria
Exclusion criteria: - Patients not able to visit the outpatient clinic at the Radboudumc - If not genetically confirmed: clinical suspicion not confirmed by a specialized neuromuscular child neurologist.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study parameter will be the description of the phenotype of childhood-onset FSHD. Therefore we propose extensive qualitative and quantitative measurements specified by age and use a modified format of the International Classification of Functioning, Disability and Health criteria (ICF-Y). ICF is the WHO framework for measuring health and disability at both individual and population levels. The domaines are body structure, body function, activities and participation and environmental factors. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcome measures are: - Prevalance and incidence estimations of infantile FSHD - (epi)genetical changes - Disease modifying factors - extensive quantitative and qualitative genotype and fenotype characterisation. | — |
Countries
Netherlands
Outcome results
None listed