Terrified of my symptoms

[3chris057]

Hello everyone,

Ill try to make this as short as possible. Let me start with my family history of ALS.

On my fathers side of the family, there are 3 people who passed away from ALS. My grandmother (Only child), great grandfather and great Aunt. We don't now much, as nobody likes to talk about it. Nobody has done any genetic testing and we do not know the gene mutation. My father is 59 and currently shows no symptoms.

About a month ago i started having muscle twitches in my left calf and left thigh. I also get them in my right leg, back and arms. I attributed this to stress but then my left calve started cramping real bad. It comes and goes throughout the day. I am very healthy and drink at least half a gallon to a gallon of water per day. My diet is balanced and i stay active. Again, I wasn't to worried but then my whole leg started cramping up. I was just laying in bed and all the sudden it got very tight. Over the next two weeks it has gotten worse. My left leg feels off. My whole leg is constantly cramping and tighting non stop. Never any relief. The twitches are bad as well and I am starting to have a slight limp of my left leg. I don't know how to describe the feeling, but my whole left leg is just off and weak. I do get some tingling as well often.

None of these symptoms are a result of an injury. They rather just started happening. I have also started crying alot, but I am also terrified of a possible diagnoses.

I ended up making a doctors appointment and had a virtual visit one week ago. My doctor admitted to not knowing much about als and just offered to give me a referral for genetic testing. I asked her for a referral to a neurologist but she didn't think it was necessary. She did agree to give me an EMG and test for B-12. I have to set a date for that soon. I had my physical in March and all the bloodwork was great.

My question is should I push my doctor for more testing or is this nothing to worry about? Also, should I ask for a nerve conduction test as well with the EMG?

If my EMG is clean does that rule out ALS for now?

What do these symptoms sound like to you?

Thank you for any help!

 

[Nikki J]

How old are you? How old were the affected people? What is the ethnicity of that part of the family?

assuming a genetic mutation your dad had a 50 percent chance of inheriting it. If he did not you do not have it. If he did your chance would be 50 percent The chance of you presenting while your dad is asymptomatic is not zero but unlikely. The answers to my questions will give information too.

genetic testing is not indicated for an undiagnosed person in a family without a known mutation. even more so because your closest affected relative is second degree.
cramping and twitching are very non specific. They will probably ( almost certainly) do an ncs with the emg. If your emg is good then cramp fasciculation syndrome might be suggested.

 

[3chris057]

I am 29 years old.

My ethnicity from my dads side is Swedish, Norwegian and German.

My grandmother died at age 59. Unfortunately She never had a chance to meet me. I am not sure how old my great grandfather and aunt were when they died.

My grandmother has four children ranging from 54-66. As far as we know, none of them have shown symptoms. My uncle is estranged and hasn't been heard from in years and may not be alive however. My aunt (54) did experience drop foot but her emg came back clean and it has gone away.

I really don't know much more. My father hides his emotion and doesn't talk about als at all. I do know that my grandmother had slurred words as her first symptoms. She passed away about a year and a half after her diagnoses. From what my mom remembers a few days before she passed away, she was still walking and using her hands. At this point she could not speak anymore and was writing her thoughts down. I guess she was someone who just kept living life and didn't talk about her als at all. My dad won't tell me anything. My Aunt says it's hereditary and was told by doctors there is a 50 percent they get it.

I am the first person in my family to really explore the option of genetic testing. I am asking all the questions but there is not much answers I am getting.

But with my left leg feeling week, cramps, tightness, twitching, tighting, tingling I am worried.

 

[Nikki J]

That ethnicity and your gms age sound like could be c9. You are really too young for that even IF your dad inherited and passed it to you. C9 common affects males in their late 50s and it is exceedingly exceedingly rare before 35 ( they write papers about it if someone gets it)

again genetic testing is not appropriate. It is not like some other genetic diseases where there is one mutation and you either have it or you don’t. There are multiple testable mutations but only 60-70 of clear FALS have a testable mutation. So if you don’t know what you are looking for a negative test is not reassuring. When your gm was ill there would have been either 1 or0 genetic mutation to test for. Most are recently discovered

 

[lgelb]

In addition to what Nikki said, keep in mind that your "feeling of weakness" is not clinical weakness, and that anyone who drinks a half gallon to gallon of water daily, and is active, is subject to electrolyte imbalances without a carefully structured diet.

There is no reason to think you have ALS. A nerve conduction test will be done as part of the EMG. If it is normal, nutrition and maybe PT, since there could be a L calf injury that is referring symptoms elsewhere, could be areas to think about.

Best,
Laurie

 

[3chris057]

I was able to schedule an EMG in 2 weeks and my GP also ordered a Vitamin B12 test. Twitching is pretty constant throughout my left leg and other parts of my body.

Tingles and feeling of tightness in my left leg to go along with slight feeling of weakness have continued. Another concern I have noticed is I am out of breath faster. I feel very calm and not much anxiety but this is concerning especially with family history.

 

[Nikki J]

sensory symptoms ( feelings) point away from ALS as do symptoms in multiple areas. When you get the emg report feel free to post it ( name removed) if you have questions. Mild abnormalities are common and usually benign so even if it is not 100 percent “ normal” which it probably will be do not freak out

 

[3chris057]

1 Week away from my EMG but things are getting worse.

Continued muscle twitching in my left calf mainly with some sporadic twitching. I am also starting to present drop foot in my left foot as well. Weakness in my left leg. I have slight muscle cramps in my right quad slightly.

I have not been able to get an appointment with a neurologist at this point, only an EMG. Starting to get very concerned at this point.

 

[lgelb]

If anything concerning is seen on the EMG, you will certainly get a neurology appointment. There is no point in worrying until/unless that comes to pass. Even if there are abnormalities, ALS is vanishingly low on a list of possible issues.

 

[3chris057]

Update:

So my general doctor ordered my EMG and also finally gave me a referral to a neurologist.

My symptoms as of now, which started 1 month ago include: Twitching primarily in my left side, but is everywhere in body at times. I would describe it as an electrical storm. It's just nonstop 24/7. I also have muscle tightness that is 24/7 in my left calve that never goes away along with cramping. My left leg is also weaker and I am having foot drop. I have tripped once from my front foot not landing properly. My left foot is showing atrophy. My left shoe is loose compared to my right.

Yesterday was my appointment for my EMG. I had this done first before seeing a neurologist. I had my nerve conduction test done first by the tech. She was great, and did a my right and left leg. Next the EMG with the needle was done. The Neurologist came in and the first thing he asked was "why I was there". He was very dismissive from the beginning because of my age (29) and did not take me seriously. He didn't even bother to wipe off my leg with alcohol and just stuck the needle in my calve and thigh. His first words were "Twitching" The test took less then 5 minutes. He then said "twitching is normal" and told me to leave with my leg bleeding.

I got back the report and all it said was "Normal" No mention of the twitching even tough that's all he said. I am confident the nerve study was done correctly, so I am happy to hear that was within normal ranges.

My first clinical exam is on July 8th, with the same doctor. I am extremely frustrated with this doctor and am tempted to cancel it but I was lucky to get in early because there is normally an 6-8 month wait. This was the worst experience with a doctor I have ever had. I feel like I won't get a fair exam with him being so rushed. I contacted the Mayo Clinic (6 hour drive) and I am hoping to get in there. I have never been there and they are waiting to look at my medical records first. I should hear back within 2 weeks. considering my family history, I am hoping to get in with limited options in my city.

My questions are: Is 5 minutes enough to properly do an EMG? And if done correctly, they would have seen something with my symptoms? How should I go about this?

 

[KarenNWendyn]

The EMG was probably done correctly if the doctor tested at least a few areas, but his attitude was inexcusable. I’m sorry you had to endure that. If it was normal in a symptomatic area, that’s a good sign.

The foot drop is concerning but not specific. Did the neurologist confirm a foot drop?

At least Mayo Clinic is within a day’s drive.

I hope you get answers soon.

 

[3chris057]

He did not confirm the foot drop. He was in such a rush and I was shocked by his attitude he never bothered asking about my symptoms unfortunately.

 

[3chris057]

I was able to get an appointment at the Mayo in Rochester with Dr. Eric Sorenson in a month. I have seen mixed reviews about him, but he seems very knowledgeable about ALS.

Has anyone here dealt with Dr. Sorenson and would recommend him?

 

[3chris057]

I received my nerve conduction results and have found some possibly troubling things.

I have highlighted the areas of concern. My doctor doesn’t seem too concerned, but he isn’t experienced at all in ALS. Could someone tell me if these highlighted areas should be anything bad ?

 

[KarenNWendyn]

Nerve conduction can suggest slowing of some peripheral nerves. It has nothing to do with ALS.