stefd
New member
- Joined
- Oct 5, 2021
- Messages
- 2
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- US
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.
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.