Desperately searching for an answer: is it really als?

[Mariachr]

Hello everyone, my name is Maria and i'm 24, i live in Greece and my mother is 62. In October 2019 we noticed that my mother had started to limp (right leg) but she wasn't complaining about anything. The next few months it got a little worse, without feeling pain or anything. Her first EMG showed radiculopathy, so some doctors claimed that lumbar area is responsible for the limping, while others recommended that it might be a neurodegenerative disease. The MRI scans of the brain, spinal and lumbar spine are clean, while only a small hernia appears in the O4 vertebrae. In February 2020, she had another EMG and the diagnosis was motor neuron disease(MND). A month later she repeated the EMG as she limped more and finds it difficult when she walks and moreover occured 'foot drop'. Clinically there are no UMN signs and the EMG conclusion is: chronic neurogenic lesions and denervation in all muscles and all spinal levels that were examined (prometic, cervical, lumbar), with normal sensory studies and without conductive blocks. There are also some fasciculations sometimes during the day. I would love to read your answers, thank you for reading my story ♡ i'm attaching the latest EMG.

 

[KarenNWendyn]

The EMG also shows evidence of acute denervation in multiple muscle areas. It is definitely suspicious for ALS/MND. I would suggest a second opinion from a neuromuscular specialist. I’m sorry you and your mother are going through this.

 

[Mariachr]

The neurologist said that these are signs of NMD but they can't name it ALS at this point, i guess due to lack of UMN signs. Is it impossible that it could be another disease?

 

[Nikki J]

There are mimics though her ncs and mri rule out a lot of them. As Karen says she should have a second neuromuscular opinion. She should also have had a lot of blood work.

technically the lack of umn signs mean not meeting the criteria for ALS as you note and it is PMA but here in the US most neuros call it ALS and all treat it the same.
i am sorry

 

[Mariachr]

Thank you so much, both of you. What kind of blood tests? Like antibodies and stuff to rule out other diseases? I'm searching a lot and i wonder: could it be an autoimmune disease, a lack of hormone (like pregnenolone), anything else that results the same on EMG study? I guess the treatment in US is riluzole too, right?

 

[KarenNWendyn]

There are a number of blood tests used to rule out mimics of ALS. The neurologist will check for B12 deficiency, autoimmune conditions, lymphoma, heavy metal toxicity (depending on history), and several other conditions.

Riluzole is often started when ALS is strongly suspected.

 

[Mariachr]

Thank you so much, i'm gratefull! Wish you the best