31 male slight drop foot

[Basketballguy15]

Hi guys, I’ll try and keep this brief. Paternal grandfather had ALS, and two years ago my paternal uncle passed from fronto-temporal dementia/ALS. Uncle has a positive gene marker (can’t totally remember..Cs9?). Grandfather never did genetic testing. Nobody else in the family is testing.

About a year ago I was noticing discomfort while driving in my right foot going into my shin. Picking foot up off gas pedal wasn’t hard per se, but it caused a decent amount of discomfort, if not pain. I was also noticing discomfort of varying kinds in my lower back right above my glute. The discomfort only one time do I remember ever becoming “searing” but it tends to increase while sitting and driving. I also noticed then that when sitting with feet up like on a bed, my right foot would hang slightlyyy lower than my left. The right side of my right foot tends to get tingly and discomfort and I’ve had varying degree of pain around my ankle when it’s being used/overused. Same with the right/outside side of my knee. Also my second toe in from the right side seems to have some numbness/ lessened sensation compared to other toes and the corresponding toe on my left foot.

I don’t think it’s any worse than a year ago (hard to tell. Certainly nothing drastic) and I’m not tripping or losing balance and nothing has spread to any other limbs in the last year. And no real twitching or spasms in the limb.

There’s more I can say about my “symptoms” and would be happy to go into more detail if asked. But ive been really stressed ever since my uncle was diagnosed and kind of wanted to see what you guys think. And yes ive scheduled an appointment with my primary dr in the hopes of getting a referral in case it (hopefully) is a pinched/compressed nerve or something of that ilk. Thanks for the input.

 

[Nikki J]

It sounds like a spine/ pinched nerve thing. With ALS I would expect no sensory symptoms AND progression in a year

It sounds like your family has C9orf72 which is the most common cause of FALS in the US and Europe and is associated with ALS and FTD. Is your dad living? He had a 50% chance of inheriting a mutation. If he did you have a 50% chance of inheriting it. If he did not you don’t have it.

Also 30 is ultra young for c9. It commonly strikes at 50ish. Generally it does not start before 35 though there are a handful of reported cases younger

If your dad is living and interested there are opportunities for him to participate in research

 

[Basketballguy15]

Thanks for the response Nikki. I needed to hear that. It’s what my rational side was thinking, but health anxiety is a powerful thing.

My father is still living and 61. No symptoms from what I can tell and I see him almost every day. My grandfather was in his early 70s and my uncle was 63ish when the symptoms of his dementia really started and he passed when he was 65. To test or not to test is a difficult thing for all of us, not the least of which is because any one of us testing (I have 3 siblings) has implications for the rest of us, and making that decision for myself would in a way be making a decision for them, and vice versa. It’s tough.

 

[Nikki J]

Were one of the four of you to test positive it would be most relevant to your dad. It would be telling him he was positive. The siblings it would upping their chance to 50% from 25%.

There are research opportunities for first degree relatives of affected people where you do not need to find out your genetic status if your dad wants to help. The mgh dials study for als carriers is rolling over to a new study with more sites and arms for healthy controls and people with ALS. Carriers/ potential carriers have one site visit a year and two remote visits There is also a similar study for ftd family members

It is important to remember that c9 is not fully penetrant meaning carriers can live normal healthy lives. The percentage that will get sick has been debated and the current thinking is there are other genetic factors in families that drive this. Genetic counselors are telling people to look at their family trees. If you were a carrier with 1 or 2 affected relatives your risk is different than mine was. My generation has three currently , the previous five and the next one two.

 

[Basketballguy15]

Thank you for the insight. I will look in to the research opps. and see if my dad has any interest.

Final question and then I’m done pestering When you say you expect to see progression in a year, what does that look like/what are you thinking? If starting from a slight drop foot, are you thinking something really noticeable just in that limb? Or for it to start affecting other limbs? Or all of the above?

 

[Nikki J]

At least something more in that limb. I am incredibly slow progressing but I can definite progression in a few months