Possible ALS variant

[trishpm]

I am a 58 year old woman who has had progressive left leg weakness (at first attributed to scoliosis) and foot drop.  Limp began to be noticeable about two years ago.  History of sarcoidosis and endometrial adenocarcinoma with radiation treatment years ago.  Muscle twitches always felt (but rarely visible) for about 18 months in both legs and buttocks.  I know that one of the possible diagnoses is a variant of ALS, or an unusual form of motor neuron disease.  Some sensory problems, no cramping, reflexes diminished, not hyperreflexive. No difficulty swallowing.  Recent improvement, for a couple of months, then leveled off.  My neurologist says I do not meet the criteria for ALS now, but thinks I may in the future. I am waiting for a recommended second opinion appointment and repeat EMG.  

EMG: some denervation in lower extremities.  Fibrillation potentials in the left rectus femoris & some positive sharp waves in the left medial gastroc & extensor hallucis longus.  Right and left sural sensory potentials present.  Fasciculations not seen (but I felt twitches all during the study!).

Some numbness and off-and-on pain in middle toes of left foot. Deep tendon reflexes absent at the ankles and 1/4 at the knees.  Flexor plantar responses present.  Power distally in legs 3/5.  Mild lumbar stenosis, not enough to account for symptoms. Normal Serum protein electropheresis, thyroid and vitamin B12  

Could the twitches something other than fasciculations?  What's the difference between fasciculations and fibs?  

What other tests should be done?  What else might this be?

[jettster]

A related discussion, The no knowing for certain is devastating was started.

[trishpm]

Thank you to CCF-Neuro-M.D.-PW for your answer.  My second opinion and repeat EMG did call the muscle twitches in my legs myokymia, not fasciculations or fibrillations, and as you suggested as a possibility, their diagnosis was lumbosacral plexopathy, a late effect of radiation treatment for endometrial cancer 8 years ago.  I have just finished a month of physical therapy, which as predicted, has not changed my limp much but has had a very positive effect on my stamina and balance. On the recommendation fo the physical therapist, I got an AFO for my foot drop, and will get a walker for longer walks because my hip muscles are weak.  I will continue to work with an exercise physiologist to preserve as much function as possible.  I have found almost no information about this condition, which apparently has no effective treatment.

[ShellyWu]

ALS is quite progressive and seeing you haven't posted in a while one would assume your situation has improved and the case is not related to ALS.  

[harlee]

Hi,
Try not to be too scared with your symptoms.  The more you look on the internet, I think the more we think we have it.  I have also been having some problems for a little more than a month.  In the beginning I was trembling inside constantly.  My legs were aching and I was having twitches all over, especially in my legs constantly.  My legs feel very weak, but there not really. I can still jump and run like normal.  I have been seeing a neurologist, who says I have medical student syndrome, I think I have everything.  I have had and eeg, lots of blood work, emg on my neck and ncs on my arms and hands, mri on brain.  Everything came back normal.  My legs are still aching and cramping off and on, and my twitching is seeming to subside a little.  I think the fear of having ALS is whats messing me up.  I have little kids, and could not imagine leaving them.

Thanks a lot

[CCF-Neuro-M.D.-PW]

Symptoms confined to one limb over time are not suggestive of ALS or an 'ALS variant'

Fasciculations are a quite common symptoms caused by many things ranging from just exercise and cold to medications to a hyperactiive thyroid gland to spinal cord problems. They can also be benign and associated with cramps. ALS is an uncommon cause of fasciculations. They are just acitvation of all the muscle cells innervated by one peripheral nerve.

A fibrillation is a spontaneous activity arising from muscles that are denervated, and reflect either damaged muscle or damaged nerve to that muscle, so they are always abnormal, but can be confused with other EMG discharges depending on the skill of the person performing the EMG.

Your symptoms and signs might localize to the lumbar plexus of nerves in the pelvis. This is the junction between the spinal cord and the nerves to the leg. It can be affected by radiation sometimes years after the end of radiation treatment to that area. This produces sometimes characteristic EMG changes called myokymic discharges. It can be difficult to diagnose. You may need an MRI aof this area and a spinal fluid analysis to see if there might be any reurrent tumor involvement of the nerves also.

Good luck