Foot/leg issues similar to diagnosed family member

[Ostrava]

Hi all

Eighteen months ago my older brother was diagnosed with slow-progressing MND, after having persistent mobility issues with his leg. Obviously my focus and that of our family has been on trying to support him through this.

Not long after his diagnosis I started to notice a substantial degree of fasciculations in the toes of my right foot. Like many people do, I get benign twitches in numerous parts of my body from time to time - not a cause for concern - but these specific toe twitches were permanent and did not stop for weeks on end. I then noticed that the inside of my foot appeared to be shrinking inwards: the inside muscle running from the ball of my foot to the heel was noticeably, asymmetrically concave compared to my left foot.

I went to my GP who referred me to neurology. This was around nine months or so ago. An EMG and nerve conduction test were done - both normal - which put my mind at rest. Probably just anxiety causing the twitches, and no two feet are perfectly symmetrical. I got on with things.

Bringing us to the present date. The twitches in my toes have not abated, and have in fact spread to the rest of the foot and the calf of the same leg. I can see the fasciculations rippling away under my sock, at all times. My foot is tight consistently, as though I'm clenching it, and the shrinking of the muscle appears to have increased. That area of the foot in particular twitches and ripples every few seconds, without cease.

No tripping or falling, but the foot gets fatigued quickly and I have to rest it a lot. The calf muscle in the same leg is also constantly firing off twitches every few seconds and is hard to ignore. This has been the case for several months now.

Is it worth returning to my GP/neurologist? A potential hereditary element is what has me particularly concerned, combined with these persisting symptoms. I'm starting to find it a little more difficult to do certain things due to foot/leg fatigue, but I'm not sure if another EMG or nerve conduction test would show anything different, given that there's no clinical weakness or failing that I'm aware of.

Thanks very much for any advice anyone has.

 

[Nikki J]

So sorry about your brother!

the odds are greatly in your favor that this is nothing given the normal emg and only one relative affected. If you are worrying go see the doctor to be sure.

was your brother gene tested at all? Many places are now doing c9 testing routinely. If he was and he was negative don’t give it another thought.

I really really think you are fine but if you are a native Scot ( or other Northern European) the population has a higher incidence of c9. Most of us know from family history that we are FALS but if you have a lot of dementia or early deaths it might be worth having your brother tested

 

[KarenNWendyn]

I went to my GP who referred me to neurology. This was around nine months or so ago. An EMG and nerve conduction test were done - both normal - which put my mind at rest. Probably just anxiety causing the twitches, and no two feet are perfectly symmetrical. I got on with things.

Spot on — no ALS here.
I would see a physiotherapist.

 

[Ostrava]

(Quick edit to avoid confusion - this was aimed at Nikki - Karen snuck in there before I replied! )

Thanks for the fast reply.

No history of dementia that I know of. My father died of cancer at 47 and my grandfather in his 80s - I think he was diagnosed with Parkinson's. No other deaths in our large extended family.

We're native Scots, yes. My brother hasn't been tested and I'd feel somewhat reluctant to ask him to do so at this stage given the implications it could have for others in the family. Perhaps I could be tested for c9 myself?

 

[Nikki J]

Testing the affected family member is the recommended route is there is a question. I am not at all sure you would be given the test under NHS. All my asymptomatic cousins had to produce my results when they went for gene counseling in the UK

C9 therapy is in trial right now so if there is an issue it is beneficial to everyone to know

however it is a great long shot given your family history

 

[Ostrava]

Much appreciated - thanks again.