Spierzieken Nederland Congress Sept. 16, 2017



            2017 " Spierziekten Nederland " Congress report

Our medical advisor's update and questions answered about HSP matters:


On 16 September at the yearly Dutch Rare Muscular Diseases Congress our medical advisor Dr. Bart van de Warrenburg gave a medical update.
He reported that appr. 80 diffferent forms of pure and complex HSP are known, and DNA exoom-sequencing is mostly used to diagnose the type of HSP-gene.
That way all known HSP-genes can be tested at the same time and 30 - 40 % of the patients can have a genetical diagnosis established.
The remaining may have undiscovered or unknown HSP-genes or ones missed because of method/equipment inaccuracy.


Last year 114 articles about HSP have been published in medical literature .
Most describe new genetic causes or patients with a certain form of HSP.
In quite a lot of the common SPG4 (considered a "pure" form) / SPAST cases in England researchers found some 25% were of some more complexity though.
Often the extra problems were of psychiatric nature (10%), like depression and autism.
In a Canadian research (>500 HSPers) 28% could be DNA-diagnosed, with SPG4 prevailing and followed by SPG3A - SPG11 - SPG7 and SPG8.
The prognostic factors for most of the restrictions during the course of the HSP-disorder were MRI-abnormalities and the SPG11-gen.


Some but far less articles were published about the biological mechanisms,
meaning research of what exactly is going wrong in the nerve cells at molecular level.
An important development is that now it is possible to reprogram a patient's skincells to stem cells , and to have these convert and grow into nerve cells.
Thus, these nerve cells of the patient's own origin and with the same DNA-abnormality can be used for research.
There were no articles about patient try-outs, that is a next step.


Our advisor stated that not necessarily all HSPers need to be screened in an HSP-expertise centre, at least one intake consult is required though.
Healthcare closest to home is usually the most comfortable and for that reason preferred.
At the diagnose stage mostly a neurologist is involved, whereas for counselling the rehabilitation specialist is often to be addressed.


With HSP the arms may be affected, but to which degree this happens differs per type of HSP.
Often only mild discomforts like trembling occur, or increased reflexes upon stimulation (e.g. examinations), whilst with other types annoying problems like disturbed coordination or weakness exist.


Also the life-expectancy highly depends of the type of HSP.
Mostly it is quite normal, but unfortunately some forms of HSP that are more aggressive may have a shorter one.

Bladder- and intestinal problems often occur with HSP, with bladder symptoms found reasonably accurate at 75 % of patients.
Intestinal problems mainly seem to be some form of obstipation, whereas as opposed to that sometimes there is a problem with holding back.

Little to nothing is known about the effects of nutrition to HSP, this remains a relevant subject for research.




Do I want to know it?

Meyke Schouten, clicical genetic specialist
Radboud University Nijmegen (NL)


Meyke Schouten, clinical genetic specialist at Radboud University NijmegenBeing diagnosed with HSP by the neurologist often explains symptoms that are existing for a long time. For part of the patients the underlying cause of complaints can be established through genetic tests.Not everyone wants to know the genetic cause of a disorder.
There are also advantages and disadvantages involved with it.
When determining the underlying genetic cause, the inheritance pattern can be clarified and sometimes the doctor can explain more about the anticipated progress and possible secondary symptoms (like other neurological complaints, epilepsy, hearing problems).


For a family member of a family diagnosed with HSP that has no symptoms there is a possibility to do a predictive DNA-test (a bloodtest).
With this test it can be determined if there is a family predisposition for HSP. This is called presymptomatic testing (testing without existing symptoms).
Presymptomatic testing is always done in a clinical genetic centre.


On the outpatient ward the way of inheritance will be pointed out together with the chances that the tested person could have inherited the predisposition.
What is known about the gene will be discussed and also why the person wants to be tested, including possible consequences for life insurances or disability insurances.
When somebody has no predisposition, that person will not get the symptoms. When there is a predisposition, very often it will prove difficult to predict how the course will be.
HSP often has a variable age of initiation and a fluctuating transition. That makes it difficult to predict if there will be severe complaints at a young age, or mild complaints at a later age.
For some people it is very clear. They want to know if they are carrier of the familiar disposition and want to have more clarity, or they want to consider the results in their choices of professional occupation and / or their family planning. For other people it is far less clear.

The choice to do a test or not is always discussed with a clinical genetic specialist.
A family doctor can refer to a clinical centre nearby for an informative consultation.








Hermien Remmelink