Neurologist sending me to ALS specialist after concerns from my exam...could this be ALS?

[LynGrange]

Hi all! Thank you for taking the time to read this.
I'm 35 and have four young kiddos.
Just saw a movement disorder neurologist this week and she is sending me to neuromuscular specialist Friday. Here is what's gone on...

-Summer 2022 I to feel weak in the legs (thigh area; would feel shaky in the legs when trying to flex at the hip mostly when going downstairs

- Early 2023: Weakness in the shoulder areas and fatigue with extreme tightness in shoulder blades and neck. (right worse than left)

- A little later in early 2023: Started having jerking movements and muscle twitching in hands. Then the twitches started in my thighs and calves and shoulders. They happen every night now (just when I notice them)

-Fall/Late 2023: started visibly losing muscle mass in my thighs and right hand. Thumb and right index finger will occasionally get stuck/triggered.

On exam I showed proximal muscle weakness and "extremely brisk" reflexes in my knees. Also could not stand up from the chair when the neurologist told me to cross my arms/not use them.

How concerned should I be and should I take someone with me to my appointment Friday?

 

[lgelb]

Hi, Lyn, sorry for what you are going through. I understand your concern.

It's always a good idea to take someone if you are not sure you will be processing everything, though you can ask to record audio on your phone.

But no one is going to diagnose you without an EMG, which I imagine will be one of the next steps and unlikely to be conducted on Friday unless you hear otherwise.

Whatever is going on, it does seem to be somewhat slow progressing. There are adult onset muscle diseases like muscular dystrophy and other myopathies, along with motor neuron diseases like (but not only) ALS. Conditions that fall kind of in between (motor neuropathies) are another possibility. There are other possibilities as well.

I can't tell you from afar how concerned to be about which of these, but I can tell you that many have good treatment options, all have peer support groups, and you will know more on Friday. That will seem very far away, so I would pack the week with spring activities with the family.

Best,
Laurie