Newly diagnosed with MND/probably ALS but have questions

[RandomMom]

Hi there –

I am a 53 year old female and was recently diagnosed with MND, probably ALS, after two abnormal EMG’s in December. I have had blood work for the usual things (all negative) and MRI’s for the spine and brain (also negative).

My only presenting functional issue is weakness in my right hand and significant atrophied muscle in that hand dating back to around June (probably sooner as I thought it was tendinitis or carpal tunnel and was ignoring it).

My next doctor’s appointment is in March where next steps will be determined depending on if my symptoms worsen.

I have been doing the recommended things (getting my will, advanced directive, finances in order, etc.) but feel like I am in a holding pattern. I am grateful that things are progressing slowly, but there are days when I just think it’s all a big mistake.

I have attached my EMG and would appreciate your input.

I have been reading the messages on the forum, have learned a lot already and am very thankful that this community exists.

Thanks so much.

 

[lgelb]

Sorry you are going through this, RM. Before you saw Dr. Wong, had the first neuro actually diagnosed you with anything? I would seek a second opinion at Temple, as we always recommend a second opinion anyway, and you have not received a definitive dx in any case. Is the neuro you're seeing in March Dr. Wong again, or someone else?

There are specific clinical exam elements and family history that could shed more light on myotonia, if it exists, and something like myotonic dystrophy is a rather different animal than MND, so it's worth it to explore the potential difference.

Best,
Laurie

 

[RandomMom]

Hi Laurie -

This has all happened very quickly.

I saw the first neurologist in December at my local hospital in South Jersey as part of a referral for carpal tunnel syndrome from a hand surgeon.

She immediately transferred me to Jefferson. After the fact, she said she suspected ALS but knew she was not equipped to treat me. I then saw Dr. Wong first in December and then for a follow up in January with Dr. Rakocevic from the ALS center.

In March, I am seeing Dr. Wong again with the idea that I many be transferred to Dr. Rakocevic.

Thanks for your advice for a second opinion and for more thorough investigation of the myotonia. Much appreciated.