28 results
The objectives of this study are:1) to quantify the muscle symptoms, muscle complaints, limitations in daily living, fatigue, mood disorders, and quality of life in patients with Brody's syndrome.2) determining the genetic background of Brody…
Long term follow up is lacking in this database. A follow up study in which patients in the database are invited to a follow up exam and imaging would be a much more complete picture of the development of TLK in achondroplasten.
The primary objective is to identify (epi)genetic and environmental disease modifying factors that contribute to the variable clinical phenotype of FSHD, in order to support the future development of new treatment strategies for FSHD. The secondary…
the aim of the current research project is to investigate the effect of the mirror box illusion on movement performance, neuromuscular activation and proprioception in children with SHCP. The following objectives are: to determine the effect of the…
Primary Objective: To determine the prevalence of endo- and extranasal deformities, problems with nasal functioning and satisfaction with nasal appearance in patients with TCS.Secondary Objective: To adjust and improve the treatment of patients with…
The purpose of this study is to further unravel the genetic origin of these individual diseases and their relation at genes level.
To investigate the effect of different spinal mechanical loading conditions on (pre-existent) rotation in the normal nonscoliotic human spine in vivo.
To what extent does the resistance to stretch of spastic muscles differ from that of non-spastic ones?Does tendon transfer affect a muscle*s functional capacity?
a. analysis of the usefulness of new molecular biological techniques in the diagnostic process of short stature, especially the detection of small chromosomal anomalies.b. identification of genetic factors causing short stature or influencing the…
researchs aims- to assess the frequency of auto-immune disease in patients with dystrophia myotonica type II compared to patients with dystrophia myotonica type I- to assess the frequency of auto-antibody formation in patients with dystrophia…
To investigate whether parents of children with adolescent idiopathic scoliosis have a significantly different neutral upright sagittal alignment compared to adult volunteers whose offspring does not have adolescent idiopathic scoliosis.
1. Detection of the gene causing Primrose syndrome. 2. Study of molecular and cellular mechanisms leading to the various manifestations of Primrose syndrome.3. Increase our understanding of regulation of heterotopic human calcium depositions
In one FOA family we have detected a deleterious mutation in a compelling gene which co-segregates with the FOA phenotype in the family. This mutation is, therefore, is likely to be causal to the early onset OA. The objective of the study is:a) To…
The goal of this study is to perform an additional follow-up visit on the FSHD-FOCUS cohort one year after the five year follow-up visit to assess the responsiveness over one and a half year, a reasonable timeframe for a clinical trial, of highly…
Primary Objective: Further delineation of the natural history and phenotype/genotype relation of vEDS pateints with a heterozygous pathogenic variant in the COL3A1 gene. Secondary Objectives: 1. reasons for referral for genetic analysis; 2. all…
Clinical, biochemical and radiological characterization of Van Buchem Disease
The primary objective of this study is to further discribe the natural course and clinical characteristic of infantile FSHD.The secondary objectives are: - To identify (epi)genetic and environmental disease modifying factors that contribute to…
We want to investigate whether blood levels of vitamin K are lower in children with O.I. compared to children without O.I.
The primary objective of the study is to examine muscle atrophy in fetuses with single or bilateral IPEV, in comparison to a normal population by measuring the circumference of the upper and lower legs by ultrasound examination. The length of the…
Obtain longterm follow-up data in a large and clinically and genetically well-characterized cohort and thereby contributing to knowledge about the disease course and clinical trial preparedness for FSHD research.