Hi there, I`m new here and I really hope that I can find someone with diagnosis Gordon Holmes Syndrome (appears as Cerebellar ataxia-hypogonadism syndrome), so we can change experiences.
This disease is so rare that my sister (37 years old) is registered as the only person in Croatia and nearby countries, with the above syndrome. The diagnosis was based on genetic findings made in USA (saliva sample) because Croatia doesn't do tests for this disease.
What are symptoms?
- rare condition characterized by reproductive and neurological problems.
- One of the key features of the condition is reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). Many affected individuals have a delay in development of the typical signs of puberty.
- In early adulthood (30 y old), developed neurological problems, started with speech difficulties (dysarthria). Problems with balance and coordination (cerebellar ataxia), difficulties with activities of daily living.
- memory problems and a decline in intellectual function (dementia).
If you know someone with similar symptoms or diagnosis, it would be so helpful.
Thank you! Stay safe!
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AtaxiaCroatia
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I (brother as well) have this rare condition. I'm from the UK and 48. I actually only became aware of this syndrome about 5 years ago at an Endocrinology appointment. However, I have had my Cerebellar Ataxia disability since birth. I was diagnosed with some form of Ataxia at 5, when a few signs started appearing. As Cerebellar Ataxia was so uncommon in the '70s, I've lived my life with a descriptive name of my disability - Olivo Cerebello Pontine Degeneration.
Most of the symptoms that your sister has, I have. I'm on 12 weekly hormone injections and yearly appointments with London Neurological and Endocrinology consultants.
This is my first reply to a post, since your sister's condition is so similar to mine. I want to thank you for reaching out and to encourage her/you to enjoy life as much as you can even though things are tough and sometimes unfair.
Hi Andrew, many thanks for your reply. We are from Croatia, and here is so hard to find any help/guiding for more information about the disease. So I am so thankful that we can exchange experience this way.
I forgot to write above that my sister also has many brain lesions.
Can you tell me more about the 12 week hormone therapy? Do you take some other supplements, vitamins? She is not on a therapy, they suggested us only physiotherapist, speech therapist, and some body strengthening supplement (I can check the name of the product) - because she lost a lot of weight.
In our family only my sister has this kind of problems. Well, we did not test any other member. But when I read all articles about the disease, I can find that is genetic disorder, genetic mutation. Maybe I can find some specialist that would like to discover more about Gordon Holmes syndrome.
When I look to my sister, I can see that is very difficult for her, but she has all of us to help her. Every day is a new challenge.
Brain lesions don't sound good, but I hope she gets better from them soon. How long has she had her these and her diagnosis for the syndrome? I suppose I'm fortunate to have had my disability for so long as my brain has rewired itself, but not enough to to stop me from failing over regularly and hurting myself and my pride as well.
My 12 week injections are obviously Testosterone supplement, but the name of the injections are called Nebido. I don't take anymore prescribed medicines, but I do have daily multi vitamins. These are for general health. Interestingly my neurological consultant keeps reminding me of the benefits of exercise for my disability as it helps with my balance.
Hi, I entered this forum for this reason, my 13 year old daughter was diagnosed with this syndrome (pnpla6 gene mutation) some months ago and I am looking for people to share experiences with... if we manage to gather many of us maybe we can start working together in order to boost research about this syndrome. My daughter currently has hypogonadism (started a very smooth estrogene therapy) and spastic paraplegia, but is still completely autosufficient. I am afraid about the evolution in the years of this disease, but as far as now there is nothing I can do about it. A european research is currently being performed about this mutation, let me know if you are interested I can provide you more information about it. Have a nice weekend!
Hi there. Hope you are fine and your daughter too. My sister has Gordon Holmes syndrome. But I am not 100% sure that is the same mutation of gene that you mentioned. I will check and come back to you soon. For sure we are interested for any reaserch that can help.My name is Romana, nice to meet you.
Hi, my sister has mutation on gene RNF216 and changes on gene POLR3B . We made a test in USA and they wrote us back that is characteristic for Gordon Holmes Syndrome.
Hello Romana thank you for your answer! yes it is definitely another gene, I didn't know different mutations could lead to the same syndromes - I will check if they research my duaghter is enrolled on also includes the mutation your sister is suffering from. My daughter has still low symptomes, a bit of everything, but apparently no sign of cognitive deficit, altough I am wondering what I shall interprete as such.... it is diffiuclt to understand. What I am doing right now is also following up on the progress of medicine and research not only on the cause (nothing to do about it) but on the possible phenotypes, such as retinal distrophy or in general ataxia - drugs therapies or other. We can share also information about these topics!
Hi, yes of course we are interested to change experience. Of therapy my sister for now use only Lions Mane formula, that is good for energy, coordination and speach. But is not medicine accepted I found this in one Ataxia group on Facebook as a suggestion. Still not seeing any progress. What simptoms your daughter has for now?
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