Voor de meeste personen met FSHD is het risico op een ernstige ziekte als gevolg van een COVID-19-infectie hetzelfde als bij de algemene bevolking. De website van het RIVM geeft hier nadere informatie over. Over het algemeen lopen oudere volwassenen en vooral degenen met chronische ziekten zoals hartaandoeningen, diabetes, en longziekten en patiënten, die medicijnen krijgen die het immuunsysteem onderdrukken, het grootste risico op een ernstige infectie. Ongeveer 10-25% van de mensen met FSHD heeft een zogenaamde restrictieve longziekte ten gevolge van zwakke borstwandspieren en hulpademhalingsspieren. Zij lopen waarschijnlijk een iets hoger risico bij een COVID-infectie vanwege problemen met een verzwakte hoest om secreties te kunnen verwijderen waardoor de kans op een longontsteking waarschijnlijk ook verhoogd is.

Als u ademhalingsproblemen heeft die verband houden met FSHD, beschouw uzelf dan als iemand met een verhoogd risico op een ernstigere ziekte, ongeacht uw leeftijd, en neem extra voorzorgsmaatregelen om te voorkomen dat u geïnfecteerd raakt. Dit geldt zeker voor iedereen die nachtelijke ademondersteuning heeft of die minder dan 50% van de voorspelde (geforceerde) vitale capaciteit (f)VC heeft getoond bij longfunctie onderzoek. In zijn algemeenheid geldt dit advies voor alle personen die een rolstoel gebruiken. Als u ziek wordt, informeer iedere zorgverlener dat u een spierziekte heeft en mogelijk een beperkende longfunctie heeft ,en dat u geen zuurstof mag krijgen zonder ventilatie als uw kooldioxide (CO2) verhoogd is. Als u thuisbeademing heeft en naar het ziekenhuis moet, vraag dan of men wil dat de beademingsapparatuur meekomt.

Vertaalt en aangepast door George Padberg

The Dutch FSHD Foundation’s goal is to stimulate, facilitate and financially support solid scientific research into the causes of FSHD, in order to find treatments and develop solutions that help improve patients’ quality of life.

Having a muscular dystrophy like FSHD affects the way you walk, the way you dress, the way you work, the way you sleep, where and how you live, and the way people perceive and treat you. Many people with FSHD cannot smile, hold a baby in their arms, and close their eyes to sleep, walk on the beach or climb the stairs. Each day brings renewed awareness of the things they may not be able to do the next day.

Although the cause for FSHD has been discovered, no treatment for this disease has yet been found. That’s why further research remains so important!

 

Kees and Renée van der Graaf, parents of a son that suffers from FSHD, took the initiative to set up the Dutch FSHD Foundation in 1997. All those years of research, sponsored by this foundation led to a terrific breakthrough in research in 2010.

In 2011 FSHD Europe was founded, at the initiative of Kees van der Graaf en Ria Broekgaarden (VSN). The road towards therapy lies ahead of us. Nobody knows how long this road will be. The FSHD Foundation will remain totally commited to finding a cure. Your support is, and continues to be, much needed!

 

Given the 'rare' occurrence of FSHD, there is unfortunately little interest from (pharmaceutical) industries to invest substantially and on a continuous basis in FSHD Research.

The FSHD Foundation stimulates, facilitates, and financially supports solid scientific research into the causes of FSHD, in order to find treatments and develop solutions that help improve patients’ quality of life.

Executive committee


The executive committee of the FSHD foundation consists of a small group of highly motivated volunteers that in their daily lives are engaged in business or science.

Annette

Annette Menheere
Chairwoman

Sophie

Sophie van der Graaf
Secretary

Robert

Robert Staartjes
Treasurer

George

Prof. G. Padberg
Research

Diana

Diana van der Meij - Kim
Member

Marjan

Marjan van Grieken
Fundraising

 

What causes FSHD?


Many muscular dystrophies are alike in that they cause progressive weakening of skeletal muscle and the loss of muscle cells and tissue. To be able to (partially) explain FSHD we have to look at the smaller cells (DNA) Our chromosomes are composed of DNA combined with proteins. These chromosomes determine the genetic instructions for our hereditary traits. Specific segments of DNA called genes determine specific traits. The combination of approximately 24,000 genes makes each of us unique. FSHD is caused by a sudden structural transformation in the DNA. This hereditary defect causes a deletion at the end of chromosome 4. The specific genetic location of the FSHD deletion is 4q35, in the D4Z4 DNA region. A deletion of the repetitive sequence of 4q35 is almost always found in FSHD patients. In the summer of 2010 researchers discovered that when this piece of DNA is missing a protein is produced which is detrimental to human muscles. This results in loss of muscle strength in the skeletal muscles. In approximately 2% of studied cases the cause has no connection with chromosome 4. If the FSHD defect on chromosome 4 is inherited a person will in all likelihood develop muscular weakness. That makes FSHD a dominant genetic disorder, meaning that each child with parents with FSHD has a 50% chance of inheriting the disease. In about 10 to 33% of all cases, however, FSHD is caused by a spontaneous mutation. FSHD occurs in both men and women. The symptoms usually start showing between the ages of ten and twenty, but the age of onset can vary greatly, ranging from five to fifty years. The course of the disease can be quite mild but also severe, and can vary even within families. Recent research has shown that FSHD progresses faster in male adolescents and menopausal women.

 

Research proposal


The FSHD foundation is encouraging the researchers in the FSHD field to send grant applications for their research proposals for the Board to review. The research should meet the goals stipulated by the foundation. We are happy to review proposals from any country. The proposals would first be reviewed by FSHD board member Prof. George Padberg. Should it meet the criteria of good research and correspond with our prorities, then the proposal will be reviewed by the scientific commettee of the Prinses Beatrix Spierfonds. In exceptional cases a shorter review process can be carried out. This applies also to small hypotheses-forming projects (under 25,000 euro).

We are looking forward to your submissions!

You can download the application form below.