23 results
To quantify muscle relaxation properties of fingerflexors using transcranial magnetic stimulation in patients with different myopathies to develop a screening diagnostic tool to assess who does (not) suffer from an underlying myopathy.
Gaining an objective insight in muscle fatigue during exercise for patients with FSHD by 1. comparing the timing of change in sEMG amplitude and sEMG median frequency, to gas exchange variables, heart rate, work load and blood lactate levels during…
To develop and examine the test-retest reliability of a wheelchair skills test for children
The purpose of this study is to examine the feasibility of both the CPET and the 6MWT as outcome measures for exercise capacity in children with DMD and BMD. This study will focus on ambulatory children with DMD and BMD. These patients frequently…
the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…
Objective: This study aims to investigate, whether children with clubfeet are facing difficulties in daily life on activity*s and participation, two domains of the ICF, comparing to their age-mates without clubfeet.
This study will consist of two parts. In the primary observational part we will assess kinematic and kinetic walking patterns in Duchenne Muscular Dystrophy. Goal is to asses the correlation between progressive contractures and gait patterns. This…
The purpose of this study is to compare two different braces in idiopatic scoliosis, by means of body brace interface pressure measurements and conventional spinal x-rays (anterior-posterior).
To obtain the reproducibility of the standing posture using with Der Wippe, a balancing device, with adjustable holder and acquire the 3D ultrasound of the spine of scoliotic patients
The goal of this study is to answer the following questions:1. Is the chance of detecting mtDNA mutations in blood or urine sediment as high as in a (much more invasive) skeletal muscle biopsy sample?2. What is the prevalence of renal failure in…
Primary Objectives: 1. Determine novel pathogenic gene mutations in families with congenital upper limb anomalies by whole genome sequencing;2. Determine the contribution of these genes in embryonic development, including proliferation and cell…
- to compare the skeletal phenotypes of each OI-type obtained at the standard scan region (i.e. using the fixed offset distance) with a recently published sex- and site-specific normative dataset of a general adult population, obtained with the same…
To investigate the differences in participation, motor abilities and function in more dynamic tasks between clubfoot patients with and without relapse and healthy controls.
Gaining an objective insight in muscle fatigue during exercise for patients with NMD by1. comparing the timing of change in sEMG amplitude and sEMG median frequency, to gas exchange variables, heart rate, work load, muscle strength, muscular…
To investigate the difference in muscle-tendon parameters of 2-11 years old unilateral clubfoot patients by means of 3D ultrasound. Subaims investigate the relation between muscle-tendon properties and age/ functional/clinical status of the clubfoot…
Primary Objective:1) To determine the efficacy of personalized progressive resistance training (PRT) on muscle strength of elbow flexors in children and adolescents with Spinal Muscular Atrophy and Congenital Myopathy compared to usual care…
Hoofddoel: We aim to assess the utility of ultrasound-defined contractile performance as a biomarker for monitoring disease progression and treatment effects in patients with FSHD.Stage I:Primary Objective:To establish the feasibility, optimal…
The key objective of this study is to determine the clinical significance of using MRI scans as a diagnostic tool to assess velopharyngeal insufficiency in cleft palate patients.
To objectively determine the severity of CTD related physical impairments, complaints and difficulties during participation in daily life activities. An additional study objective is: - To determine risk factors for the development of health…
Objectives: (1) To find out in which skin layer (epidermis or dermis) and which skin cell type the Gs* mutation resides.(2) To determine osteogenic transdifferentiation- and mineralization characteristics of osteogenic cells that result from…