Undiagnosed and frustrated
 

Hi,
Thank you in advance for listening.

I began having symptoms 7 months ago. It started with sudden onset weakness in my leg muscles while riding my horse. The muscle weakness was extreme and included my arms also. Within a few days I could barely walk. Trembling with the effort of taking two or three steps. Could barely stand long enough to brush my teeth, couldn’t dry my hair, drive, etc. A day after the weakness started I developed pain in all my limbs and abdominal muscles. It was bad 8/10. I had muscle cramping, muscle fasciculations, trembling, unsteady hands, balance issues, dropping objects. The muscle pain seemed to move around from muscle group to group systematically. There was some joint pain for a few weeks. There were areas of abnormal nerve sensation in my skin. Hot felt hotter, cold felt colder.

I couldn’t sleep. Either I couldn’t get to sleep or would wake up and not get back to sleep. If I did seem to sleep, I woke up totally exhausted. That went on for 2 1/2 months until I finally had a little break down at work and couldn’t go on.

My entire life became about planning how to get one thing done a day. Could I make it through a shower, get downstairs and do a load of laundry, could I stay upright long enough to buy groceries?

I eventually also developed Myoclonus type muscle jerks.

The symptoms have steadily, but slowly improved starting about three weeks after they began. I still have constant pain 3/10 and weakness in my quads, mild Myoclonus jerks and the abnormal nerve sensations. I started with PT last week.

I have seen internal medicine, 3 neurologists, 2 rheumatologist, infectious disease, sleep medicine and neuropsych. MRIs of brain/spine, CSF Tap, autoimmune testing, Lyme testing, other infectious disease testing, MG test, MS work up, nutrition levels, chest rads, abdominal ultrasound, thyroid test, EMG/NVS, EEG, sleep study, neuropsych function tests, Cushing, test, you name it!

The only abnormalities of any note are proximal leg weakness, decreased grip strength, hyperactive reflexes. Increased ANA (1:320), very mildly elevated aldolase, low normal vit b12. First EMG read as mild demyelination and absent F Waves, second EMG was normal.

NSAIDS only help a little, Tylenol not at all. High dose pred made it all worse. Tizanidine helps the most- reduces pain, muscle jerks and improved balance and strength.

I haven’t had skin or muscle biopsies, genetic testing or paraneopladtic testing.

I’m at my wits end. I lost my balance a few weeks ago, fell down and broke my wrist. That required surgery and will never be the same again. I was only able to work part time before breaking my wrist, now I’m out entirely. FMLA running out. Can’t get disability without a diagnosis. It’s all so frustrating. I’ve had a million dollar work up, but no answers yet.

Do these symptoms sound familiar to anyone? They sure don’t fit anything my Drs have heard of.

Any information or advice would be greatly appreciated.

Hi vmd1995

Welcome to NeuroTalk :).

The only thing that I can think of concerns your elevated ANA titre. When that test was run did they also look at the staining pattern of your antinuclear antibodies? This can be indicative but is not necessarily diagnostic of some different autoimmune diseases.

RACGP - Antinuclear antibody test

Best wishes.

Kiwi33,

Thank you for your reply.

The ANA was Atypical Speckled. I tested negative for all of the autoimmune diseases associated with that pattern.

But---
 

--no one suggested a possible Guillain Barre syndrome or related acute onset demyelinating neuropathy?

The pattern you are describing certainly fits--they likely would have had to spinal tap you to find the proteins to nail down such a diagnosis, but the onset and EMG/NCV results are certainly suspicious.

glenntaj,

GB was not considered as a likely DDx because I never lost my reflexes. In fact they were hyperactive. I did have a CSF tap. It was totally normal. I asked about GB or some unusual variant several times. When the second EMG/NCV came back normal (close to 3 months into the problem) I believe GB and peripheral neuropathy in general were written off.