Input appreciated, thanks for your time & knowledge

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stefd

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Good morning, thank you for taking time to read this. I appreciate any input, I may be way off base here. This is for my husband, his neurologist is leaving his practice and the group hasn’t decided who will take his caseload, we are in a wait and see phase at this time. He had an appointment last week for skin punch biopsy & doctor told him he has a “degenerative neuromuscular disease” based on what has been learned so far. I will try to keep quick & concise, highlighting medical records I have from my husband from initial appointment in August and testing. Symptoms leading up to reason for visit are muscle fatigue & aching (most notable in legs), balance issues, and some trembling.

EMG: left upper extremity EMG of selected muscles shows abnormal myopathic MUPs involving APB, FDI, & bicep muscles. Additionally EMG shows abnormal myopathic MUP diffusely. Normal large fiber nerves, cannot exclude small fiber neuropathy.

Muscle biopsy: Most distal muscle, calf, does show chronic neurogenic changes suggestive of peripheral neuropathy.

MRI w/ & w/out contrast: Normal

Labs: Normal, including CR level being 106, myasthenia gravis negative

Gait test: shows abnormal for “one leg standing” and positive (failing ) Romberg for balance

Somewhere in there they determined he has hyper reflexivity in his leg.

Athena diagnostic testing (I believe genetic but haven’t gotten the kit yet) ordered and suggested follow-up of repeat EMG in January.

Any input is greatly appreciated.
 

Nikki J

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Hi
the emg report says findings are myopathic. Myopathy means a primary muscle disease. ALS is a motor neuron disease and looks very different on emg. I gather you do not yet have the results of the skin biopsy? That would be looking for the small fiber neuropathy mentioned in the report.

Athena is probably genetic testing yes. Your husband has every right to know what is being tested. I am surprised he was not told. I had my genetic testing through Athena and there was a requirement for the doctor to attest that I was counseled about it.

I hope you get answers soon. So far nothing you have said leads me to think they are thinking ALS. Did they mention ALS to you?
 

stefd

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Hi Nikki, thanks for your response. They have not not mentioned ALS, they haven't mentioned anything specific by name. I gather they are trying to narrow it down and the group he sees is owned by our local hospital system and will not allow any family members into appointments right now due to covid. As he explained to me, "I just shut down when they were talking to me." I can already tell we can cross many potential neuromuscular diseases off the list due to the testing he has completed. We do not have the skin biopsy results back yet. Forgive me if I put you on the spot, but do you feel like based on what I have written it is not ALS, or do you think that is still unknown? Thank you again! And planning to switch to a new group since this doc is leaving and it will be one that lets family members into appointments for certain.
 

Nikki J

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What you have shared from the emg and the ordering of the skin biopsy definitely says to me not ALS. You should have been allowed to facetime in to the appointments. if he has more appointments please ask to do so. You should also get all his medical records. You will need them to go elsewhere but you should have them for your own use and edification. It is now required that almost all medical records by available in a timely manner I can now read my clinical notes on the patient portal. There is also an after visit summary ( which has been required for some time). Mine lists the reason for visit ( diagnosis or symptom) tests ordered and future appointments and medications. The note and the summary should give you a lot of information
 

lgelb

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Myopathy as Nikki says is completely different from a motor neuropathy or neuronopathy. The muscle biopsy report does not seem to match up with the EMG. Of course, there can be more than one thing going on, but nothing you wrote resembles/suggests ALS.

Totally agree, glad you are moving to a new group, but even if he is by himself ever anywhere else without a telehealth setup, have him Facetime or Zoom or whatever with you on his phone. Recording it is not the same because you should be able to ask questions that he might not think of in the moment.

Best,
Laurie
 

affected

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Here in Australia, as carer for my brother with another neurological condition, I accompany him to all his doctor appointments by phone which is enough for us. I would have him insist that he has someone with him virtually. Mostly what I do for my brother is have a list of questions/concerns, listen and take notes. But I can ask for clarification on things as well.
 
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