Concern for PLS

[Megan51896]

Hello, I am a 28F. My symptoms began with noticing if myself or others would bump or pat my knees, I would experience intense shaking for about a year now. Of note I was in PT over the summer for left hip issues. PT noted weakness in both legs, worse on left though. Made the comment he had never seen such weak muscles feel so tight and stiff. Chalked it up to my Ehlers Danlos, diagnosed since I was 14, so I chalk everything up to that honestly lol.

I brought up the leg shaking to my PCP at my annual who referred me to neuro without any exam at all. Still wasn’t concerned at this point, just considered it could be normal variant so I was surprised I was getting referred anywhere. Neuro discovered positive Hoffman bilaterally, upgoing babinski on the left and exaggerated jaw jerk. Increased tone in left leg. Suspected MS but this was ruled out with MRI.

Onto the neuromuscular specialist I go. Noted the same physical exam. EMG normal. Huge lab work up all normal (vitamins, autoimmune, etc). Left leg to the point I cannot extend it fully at all. Spasms and jerks in my legs worst in cold and at night. I am uncoordinated but thankfully no falls as of yet. Doing daily stretching and on baclofen now but not noticing much improvement, but not really worsening either.

Now neuromuscular doc is considering HSP. No family members with similar symptoms. PLS has not been mentioned (only that he has continued concern for a motor predominant process) but anyone else start with similar symptoms? I am not concerned for ALS with negative EMG, so I hope this is ok to post. I apologize for the long post too. Just in a bit of denial with all of this and I am hoping it’s all going to end up resolving itself.

 

[ShiftKicker]

Hello-

Absolutely fine to post. With your young age, I understand why they're looking at HSP. The SP doesn't always have to be "H". It's a misleading name for a condition that can absolutely affect people with zero history in their family.

What are next steps with your doctor? Are they referring you on to a neurogeneticist or someone that is familiar with HSP/SPG?

It's excellent that you are working on stretching, etc. The UMN conditions are definitely helped by maintaining as much joint mobility and muscle looseness as possible. I do recommend you find a physio if you can that is familiar with neuro issues- and work on proprioception and strengthening less affected muscles.

 

[Megan51896]

Thank you for the response. That makes a lot of sense, I was not aware HSP was not always hereditary. Next step is a repeat physical exam next month and discussion about genetic testing. Not sure if I will be referred out for that or not.

I will definitely look into finding a physio as well. I appreciate the advice.

 

[lgelb]

You can search on something like "neuromuscular" and "connective tissue disorder" (which EDS is) at the APTA site for PT near you.

EDS can cause a lot of new physical issues, and the wrong PT can make things worse because of the reduced structural stability, so I would also look at the EDS sites for recos or maybe branch out from your last PT and local medical geneticist.