36 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 characterize the natural history and progression of DMD to help inform the design of future studies•To capture biomarkers of safety and disease progression•To provide comparative data for the development of rare exons for which formal controlled…
To develop and examine the test-retest reliability of a wheelchair skills test for children
To perform 31P-MRS during and after exercise using a specifically designed probe to determine variations in energy metabolism along the TA muscle in healthy humans subjects.
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…
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
The main objective of our research is to develop an FCE for use in one-handed individuals. The main objective of this part of the study is to gain descriptive data on muscle tension of the back, neck and shoulder, joint movements of the shoulder,…
The aim of this study is to explore the value and added value of a wrist unit that can be put in a flexion position (Flex-wrist, Otto Bock ®) and a wrist unit that can not only be put in a flexion position but can also move freely in a neutral…
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 Objective: to investigate whether the variation of the number of lumbar vertebrae in humans is coded by the same genes which are responsible for this as well as in other mammals.
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 investigate if difference in fiber type and/or oxygen supply are the underlying cause for the difference in PCr recovery along the length of the tibialis anterior muscle.
The primary aim of this study is to document with quantified measurements the natural history of Duchenne Muscular Dystrophy. Several validated tools will be used to describe motor, orthopedic and respiratory functions, and quality of life along a 6…
- 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…