PMW1234
New member
- Joined
- Sep 26, 2020
- Messages
- 2
- Reason
- Other
- Diagnosis
- 00/0000
- Country
- UK
- State
- KE
- City
- Swanley
Good evening,
I will try and make this as brief as possible, which is always easier said that done. I am a 47 year old male living in the UK.
My father was diagnosed with BV FTD back in 2014 after noticeably changed behaviour over the previous couple of years or so (in reality, it may have been longer). The specialist felt that it may well be sporadic and no genetic testing was carried out. However, my grandmother on my father's side did not know her father or anything about his family (apparently). She died in her early 80s without ever developing FTD or MND but was terrified of getting dementia, which makes me wonder if she did know something.
In early Feb this year I had a tightness in my throat and what seemed like excess saliva, particularly at night. I wasn't overly concerned but did make an ENT appointment that was then cancelled in late March due to Covid.
Over the past few years I have got into running (largely to counteract the excesses!) and had been regularly competing in races. Around April in lockdown I noticed that my muscles were really tight and at times it felt as though I was about to cramp whilst running (rubbery sensation in calves etc). I never seemed to recover between runs even if I rested for a number of days.
In August I first noticed the fasciculations, which have been 24-7 ever since and often in multiple places at the same time. It is chronic. At that point and not knowing anything about genetic connections with FTD, I got onto a neurologist.
An EMG was carried out along with nerve conduction test. The latter was normal but the EMG showed widespread fasciculations including in the tongue but with no denervation.
The swallowing issue by that time became more noticeable and I rebooked the appointment with the ENT expert. The Barium swallow test showed esophageal spasm (the doctor also mentioned mid goitre and nodules on the thyroid detected through ultrasound, which are thought to be benign).
Since September my right arm/hand has developed a postural tremor observed by my neurologist and I have dropped a number of things recently such as my phone and wine glasses. When I go to pick something up I seem to fumble as the muscles tighten.
There is a clear tightening and cramping with several muscles upon use, particularly on the right side. The swallowing feels like the muscles grip and do not release properly. The right arm is the same- they really tense up tightly and don't seem to coordinate properly like they have a mind of their own. I am still able to run but it's like a car without any suspension- as I hit the ground the muscles are tight and not flexible,
Finally, I had a C9orf72 test at the beginning of December and am awaiting the results. All other previous bloods carried out in early September were normal apart from a super high B12 reading, which is supposed to be a good thing (no Lyme test was done despite me suggesting it as we have 2 dogs, 2 cats and I do a lot of cross country running). The neuro has dismissed Lyme though.
Covid means everything has ground to a halt and I am getting frustrated. The symptoms at the moment are annoying but not debilitating (the twitching often wakes me up for example). There is no choking but liquids need a couple of attempts to fully get rid sometimes as there is some residue left behind.
Do these symptoms sound like ALS?
I have also got a DAT scan lined up that has been put on hold as the Neuro suggests there may be overlap with PD.
Thanks for taking the time to offer me any advice. I'm not neurotic about my health so will happily take any input and if I'm barking up the wrong tree, move on.
Thanks
P
I will try and make this as brief as possible, which is always easier said that done. I am a 47 year old male living in the UK.
My father was diagnosed with BV FTD back in 2014 after noticeably changed behaviour over the previous couple of years or so (in reality, it may have been longer). The specialist felt that it may well be sporadic and no genetic testing was carried out. However, my grandmother on my father's side did not know her father or anything about his family (apparently). She died in her early 80s without ever developing FTD or MND but was terrified of getting dementia, which makes me wonder if she did know something.
In early Feb this year I had a tightness in my throat and what seemed like excess saliva, particularly at night. I wasn't overly concerned but did make an ENT appointment that was then cancelled in late March due to Covid.
Over the past few years I have got into running (largely to counteract the excesses!) and had been regularly competing in races. Around April in lockdown I noticed that my muscles were really tight and at times it felt as though I was about to cramp whilst running (rubbery sensation in calves etc). I never seemed to recover between runs even if I rested for a number of days.
In August I first noticed the fasciculations, which have been 24-7 ever since and often in multiple places at the same time. It is chronic. At that point and not knowing anything about genetic connections with FTD, I got onto a neurologist.
An EMG was carried out along with nerve conduction test. The latter was normal but the EMG showed widespread fasciculations including in the tongue but with no denervation.
The swallowing issue by that time became more noticeable and I rebooked the appointment with the ENT expert. The Barium swallow test showed esophageal spasm (the doctor also mentioned mid goitre and nodules on the thyroid detected through ultrasound, which are thought to be benign).
Since September my right arm/hand has developed a postural tremor observed by my neurologist and I have dropped a number of things recently such as my phone and wine glasses. When I go to pick something up I seem to fumble as the muscles tighten.
There is a clear tightening and cramping with several muscles upon use, particularly on the right side. The swallowing feels like the muscles grip and do not release properly. The right arm is the same- they really tense up tightly and don't seem to coordinate properly like they have a mind of their own. I am still able to run but it's like a car without any suspension- as I hit the ground the muscles are tight and not flexible,
Finally, I had a C9orf72 test at the beginning of December and am awaiting the results. All other previous bloods carried out in early September were normal apart from a super high B12 reading, which is supposed to be a good thing (no Lyme test was done despite me suggesting it as we have 2 dogs, 2 cats and I do a lot of cross country running). The neuro has dismissed Lyme though.
Covid means everything has ground to a halt and I am getting frustrated. The symptoms at the moment are annoying but not debilitating (the twitching often wakes me up for example). There is no choking but liquids need a couple of attempts to fully get rid sometimes as there is some residue left behind.
Do these symptoms sound like ALS?
I have also got a DAT scan lined up that has been put on hold as the Neuro suggests there may be overlap with PD.
Thanks for taking the time to offer me any advice. I'm not neurotic about my health so will happily take any input and if I'm barking up the wrong tree, move on.
Thanks
P
