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cholinergic dysautonomia/pure cholinergic autonomic


lynda

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Hello, nice to meet you all. I note most posts relate to POTS, wondering if there is anyone else with my daughters condition? We are from the UK and no other contact with anyone due to rarity of condition. Diagnosis was about 18 yrs ago when age 12. Post viral. Symptoms - cant sweat, cry, non reactive pupils(apart from pain stimuil) dry mouth, dysphagia, low bp, faster heart rate, bad gut motility, tiredness and various other niggles. Seems generalised joint pains are popping up, back, hips, knees, wrists - can anyone shed light on that please. Oh and she has developed diabetes following gestational diabetes - probably going to need insulin! Be interesting if there is anyone else with her smorgasbord of symptoms! Thanks xx

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Lynda,

Is another name for what your daughter has "Pure Autonomic Dysfunction "?  I haven't heard of what you are calling it but I'm in the USA and I have found that there is sometimes a difference in what things are called between here and the UK.

I know there are a few members here with Pure Autonomic Dysfunction. It's not as common as POTS but we do have a few.

Also, I might suggest you take a look at information on Ehlers Danlos Syndrome which is often found as an underlying cause of autonomic dysfunction. The Hypermobile type is the most common and can cause anything from mild to severe joint pain. A good resource to find good accurate information for EDS is www.ednf.org .

Welcome to our community. Hopefully others will chime in.

Katie 

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thanks for your reply, I am hoping that a few may recognize symptoms and offer alternative names! Have considered eds, think if it were that, it would have been picked up. She had virus type symptoms initially, flu type symptoms, lots of nausea and vomiting ( due to total shut down of gastric function) and no crying. Then admitted to hospital for observation and tests, diagnosis by Prof Mathias of the national neurological hospital in London. Always been told its acute or pure cholinergic dysautonomia but yes, possibly different names! Interesting to see what crops up x

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No, not PAF, isn't PAF degenerative and mostly older males? Hazel got hers age 12 and  it comes under pure cholinergic dysautonomia, widespread parasympathetic failure, as in cholinergic cos both parasympathetic and cholinergic sympathetic pathways to sweat glands are affected. Blurry vision, dry eyes, fixed dilated pupils, xerostomia, dysphagia, constipation, urine retention, anhidrosis, distended abdomen, raised heart rate, lower bp but not to fainting , dry skin, fatigue, some brain fog. Seems also to have achy and sore joints, mostly hips, back, knees and wrists! We dont understand that bit. Oh and just diagnosed with diabetes type 2 following gestational diabetes (understand this is unusual in itself)......

 

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And I had what was known as 'being double jointed' when I was a kid, always been very flexible, am 59 and still quite bendy! Know its a form of hypermobility, and skin easy to get stretch marks, but not EDS. Hazel is a bit mobile but not as much as me.Her dysautonomia was a post viral thing, prior she was very healthy child!

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Hi Lynda and welcome! I'm sorry your daughter has so much going on. Is she still seeing dr Mathias? He seems to be top doc in the UK! I have been diagnosed with diabetes about twenty years ago and undiagnosed a few months later. I have found out that my blood sugars are jumping up and down through the day. A low carb diet is helping to level out the highs and lows. There are several members here from the UK so perhaps this forum will help you find some like minded people to make you feel less alone. 

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hi corina, prof Mathias is now retired and hazel only sees whoever is available every couple of years or so , just for observation as there is nothing treatment wise that can be done. Hazel tries for good diet, been changed from metformin to (cant blooming remember the new one) and if her sugar levels don't go and stay down, its insulin! Her dysautonomia is very rare so any one with her symptoms would be brilliant, especially in relation to joint pain! Sending beat wishes corine xx

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  • 2 weeks later...

Hi Lynda - I am sorry to hear about what's going on with your daughter. I will tell you a bit about my experience in the hope that can possibly shed some light for you.

It is my understanding that POTS is just one piece of Dysautonomia (which I have). I also have chronic fatigue, gut issues, low BP (orthostatic hypotension, neuro cardiogenic syncope and severe vasodepression), tachycardia (fast heart rate which is the POTS), inability to regulate temperature, presyncope and syncope, dizziness and balance issues, cognitive impairment due to fatigue and brain fog, and various joint pain here and there and I may be forgetting some things. There are a lot of symptoms that fall under the umbrella of Dysautonomia.

I have also heard of people having additional autoimmune disorders as well. For example Sjogrens which has symptoms of dry eyes and dry mouth etc. Not saying your daughter has this. Just saying it is not always cut and dried as we would like it to be, unfortunately. 

I hope you and your daughter find answers and the treatment she needs to maintain her symptoms and improve both her comfort and quality of life.

Sending strength...wishing you both the best!

Kaitlyn

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hi and thanks for your replies. Just gonna post a little of most recent neuro letter.....

'there is a defect in the autonomic nervous system.....the entire cholinergic limb is damaged.....gives rise to such problems of dry mouth, constipation etc and bilateral tonic pupils......also another constitutional tendency towards joint hypermobility.....this tendency is more likely to cause problems with blood pressure and predisposition to chronic joint pain. It has an autoimmune basis and no recovery is likely, symptoms may become more prominent'.

Any comments please most welcome ?

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  • 2 months later...

Hi Lynda,

I have also been diagnosed with Pure Cholinergic Dysautonomia after a flu-like illness. I have Ehlers Danlos syndrome so already suffered with POTs when I then had the flu virus and developed the cholinergic problems. My father is a doctor and thinks that the EDS/hypermobility has somehow has made me more susceptible to this but he is not sure of the mechanism.

I have seen Prof Mathias and been to Queen's Square but there's not much anyone can seem to do. If you don't mind me asking how has your daughter's condition progressed? Has she stayed the way she was or have the symptoms worsened? I am only 3 years into this and your daughter is the only other person in the UK that I've found who has also got this form of dysautonomia.

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