Fasciculations, atrophy and pain in hands

[mab]

Hello - thank you all so much for the resources provided in the "Read Before Posting" posts. I've read them very carefully and have waited several months before posting. However, I'm feeling increasingly concerned and would greatly appreciate advice from others who have been through a similar process.

I'm a 29 year old woman, and prior to the last 21 months, I've been generally fit and healthy. I've run marathons and am a former D1 track athlete. I started experiencing fasciculations in my left quad 21 months ago, which quickly spread throughout my body (both legs, both arms, hands and feet, abdomen, shoulders, face, etc.). At the time, I noticed no muscular weakness or atrophy. Worried, I saw my PCP in April of 2018 who referred me to a general neurologist, who I saw in June of 2018. The neurologist ordered an EEG, EMG, and MRI of my brain and spinal cord, which all came back normal. My blood work showed elevated CPK, so she referred me to a rheumatologist. I saw a rheumatologist in October of 2018, who re-ran the bloodwork. This time my CPK came back normal, and the only abnormality was a positive rheumatoid factor (108 U/L).

I took the results back to my PCP, who recommended I get a second opinion on the fasciculations from a neuromuscular specialist. It's a long story, but after many canceled appointments and a bit of back and forth between neurology/rheumatology at Johns Hopkins, I was finally able to see a neuromuscular specialist in July of 2020. She performed an EMG, which came back slightly abnormal. Her notes state, "This is an abnormal study and shows evidence for a left ulnar neuropathy at the elbow. Reflexes are hypoactive but present." She reassured me that this is not ALS, and that ulnar neuropathies are very common. She told me to come back in three months if I noticed atrophy in my hands and/or weakness.

I have noticed atrophy in both of my hands (photos attached), cramping and weakness, as well as thinning in my face (confirmed by my partner and family - my jaw seems to have disappeared). I went back to the same neuromuscular specialist in September of 2020, and she recommended that I see her every 3 months to determine if I'm experiencing progression. She also re-ran my blood work, and once again, it showed a positive rheumatoid factor (but negative ANA). She recommended I see another rheumatologist, which seems silly, but I've scheduled an appointment for January of 2021 (the specialist are so challenging!).

I'm still able to slowly jog (I generally walk/jog 2 - 3 miles a couple times a week - it's a far cry from marathon training, but it's something), but I find that my legs fatigue quickly and I get very out of breath. I also believe I'm losing muscle in my legs and have dropped a pants size. Despite the cramping in my hands, I'm able to write, type, and grip objects. However, I've noticed decreased dexterity in my pinky and ring fingers on each hand and consistent pain in my thumbs and pointer fingers. While I've noticed some shaking in my face when smiling or grimacing, I'm still able to speak and swallow without difficulty, although my tongue feels a bit slow, and I've found myself biting it more than usual. Additionally, I have acute pain in my lower back and neck and continued fasciculations throughout my body (which have recently been worse in my shoulders and arms).

I've read that ALS is sometimes initially mis-diagnosed as carpel tunnel syndrome or as an ulnar neuropathy, and I'm worried that's what is happening here. I know that it would be abnormal for me to experience atrophy before signs of clinical weakness, but I've also read that ALS appears and progresses differently in everyone. I'm wondering if anyone here experienced a similar progression to what I described above? Or, if anyone here was ultimately diagnosed with something other than ALS? I'm also wondering if it would be worthwhile to see an ALS specialist?

Thank you so much for taking the time to read this post and for your thoughts.

 

[lgelb]

I see no reason to worry about ALS. I'm not sure what you've read where, but ALS affects most voluntary movement whereas ulnar neuropathy is very, very common, since it is essentially an overuse injury. These two cannot really be confused once more nerves are involved, as shown on EMG, and besides, ulnar neuropathy shows a different electrical pattern.

From what you say, a myopathy, systemic disease, or rheumatologic disorder is much more likely than a widespread neuropathy. I would ask about a PMR referral to discuss how your symptoms can be managed as the diagnostic process proceeds.

Best,
Laurie

 

[mab]

Laurie, thanks so much for your quick reply. I'll be sure to ask about a PMR referral at my next appointment.

 

[mab]

Hi all, I apologize for the additional post. However, I've developed increased twitching and weakness in my neck and face. I'm having difficulty making and holding certain facial expressions (grimace, wide smile, yawn etc.), and I'm experiencing pain in my jaw and neck muscles. I also believe that my facial muscles are atrophying on the left side. I plan to ask my neuromuscular specialist to conduct another EMG (this time focused on these areas), but I wonder if you have advice on additional testing?

Would anyone here recommend a lumbar puncture or muscle biopsy as a diagnostic tool? // Did anyone here find either of these tests helpful in their diagnostic process?

As the two-year mark approaches and my symptoms persist, I'm hoping to address this process in partnership with my physician with increased urgency. Thank you.

 

[Bestfriends14]

You know the hallmark of ALS is failure, right? You haven't described failure at all, yet you say you have had symptoms for two years. Because of the length of time of your symptoms, is there a reason why you would think ALS when you don't evidence it?

As for neck and facial weakness, they occur when the person is essentially a quadriplegic and well into the disease. They do not occur as initial symptoms.

For your next steps, your questions can only be answered by your doctors. This is a forum for those with ALS, their caregivers, or those being diagnosed with ALS. Unfortunately, this forum cannot serve as advice for general health concerns.

I do wish you the best and hope your docs can find out whatever is ailing you.

Take care and stay safe.